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Journal of Community Genetics logoLink to Journal of Community Genetics
. 2020 May 7;11(4):391–403. doi: 10.1007/s12687-020-00464-6

Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals

Anne E Reed-Weston 1, Aileen Espinal 2, Bianca Hasar 2, Codruta Chiuzan 3, Gabriel Lazarin 4, Chunhua Weng 5, Paul S Appelbaum 6, Wendy K Chung 2,7, Julia Wynn 2,✉
PMCID: PMC7475159  PMID: 32382939

Abstract

Genetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret sequence variants improves. Studies have demonstrated that people want to learn about their genetic information and do well after learning it, but minorities are underrepresented in these studies. We surveyed Ashkenazi Jewish (AJ) and Latino/a participants in a genetic screening study to solicit choices about genetic results to return, as well as their experience with learning these results and attitudes about genetic information secrecy and security. Participants had the option to proceed through the study self-guided, and few elected to have traditional pre-test genetic education and counseling. Despite this, the majority were satisfied with the process of selecting and receiving genetic results and felt that they understood their results. Concerns about privacy and confidentiality of genetic data were minimal, though some participants expressed modest concerns about keeping any potential results secret or the confidentiality of their genetic information. Our results support the feasibility of the option of self-guided genetic screening. Additional care will need to be taken when designing population-based screening studies to meet the needs of participants who come from communities with different experiences with genetics.

Electronic supplementary material

The online version of this article (10.1007/s12687-020-00464-6) contains supplementary material, which is available to authorized users.

Introduction

Genetic screening of healthy individuals for personal disease risk or carrier screening for reproductive genetic risk can be used to provide healthcare guidance. Carrier screening, which provides information about the risk to have a child affected with a genetic condition, is endorsed by the American College of Obstetricians and Gynecologists (ACOG) (Committee on Genetics et al. 2017) and American College of Medical Genetics and Genomics (ACMG) (Grody et al. 2013) and is commonly offered in clinical practice (Hallam et al. 2014; Peyser et al. 2018). However, genetic screening of healthy individuals to identify personal disease risk in asymptomatic people is less common and is typically limited to individuals with a relevant family history.

Genetic screening to inform personal disease risk has only recently become an option as the cost of sequencing decreases and our ability to interpret variants improves (Bowdin et al. 2016). While recent evidence suggests that genetic screening in specific circumstances and populations (i.e., those with a family history) may be cost-effective (Catchpool et al. 2019; Sun et al. 2019), the medical utility and economic benefits of genetic screening for the general population remain unclear (Christensen et al. 2015). Medically actionable secondary findings or pathogenic variants in genes associated with disease unrelated to the indication for testing may be offered to people undergoing clinical and research exome/genome sequencing (Kalia et al. 2017). Although this opportunistic screening differs from population genetic screening, it has similar consequences of identifying asymptomatic people at risk for disease (ACMG Board of Directors 2019; Nussbaum et al. 2019). Additionally, genetic screening for the general population is available through direct-to-consumer companies such as 23andMe®, albeit for select variants and of debatable utility (Wynn and Chung 2017; Bates 2018). The literature on patient/participant preferences and experience of receiving genetic screening to inform personal disease risk in the absence of disease and/or family history is evolving. Early studies have demonstrated that research participants are interested in receiving these types of genetic results or at least having a choice to receive them (Townsend et al. 2012; Wynn et al. 2016; Rini et al. 2018). Minimal or no adverse psychological outcomes have been identified in participants receiving these results (McBride et al. 2010; Wynn et al. 2018b; Robinson et al. 2019). However, the generalizability of these studies is limited as the majority of the participants were of European, non-Latino ancestry and were educated adults with above-average socioeconomic status who likely represent early adopters of genetic screening (Zoltick et al. 2019).

The Ashkenazi Jewish (AJ) community is a genetically well-characterized population. The community is genetically more homogeneous than many communities in the USA and has a high prevalence of known founder mutations (Ostrer and Skorecki 2013; Carmi et al. 2014). The practice of intermarriage, sometimes within Orthodox sects, historically led to a higher prevalence of recessive conditions with AJ founder mutations, like Tay-Sachs disease. The community established carrier screening programs for autosomal recessive conditions, beginning in the 1980s. Within some Orthodox communities, young people have non-disclosing carrier screening through a program called Dor Yeshorim, and this information can be used in match-making (shidduchim) to decrease the risk of having children with serious recessive conditions (Leib et al. 2005). In less traditional and secular communities, couples frequently pursue AJ carrier screening after marriage and are able to elect reproductive options to prevent recessive diseases (Baskovich et al. 2016). The widespread adoption of reproductive carrier screening across the Jewish community has resulted in a significant decrease in multiple recessive conditions (Baskovich et al. 2016; Yao and Goetzinger 2016). The success of carrier screening is likely related to several factors including the significant burden and high frequency of certain conditions in the community, strong community ties, community education programs, endorsement by rabbinical leadership, and the option of a non-disclosing screening program, which removes the potential for stigma for recessive conditions (Ekstein and Katzenstein 2001; Holtkamp et al. 2016).

There have been more recent initiatives to explore population genetic screening for hereditary breast and ovarian cancer for the Jewish founder mutations in BRCA1/2 present in 2.5% of the AJ population (Etchegary et al. 2009; Manchanda et al. 2015), as well as a discussion of breast and ovarian cancer genetic screening for the general population (Gabai-Kapara et al. 2014). Within the AJ community, screening for adult-onset, autosomal dominant conditions that a healthy individual is at risk to develop and could pass down to their children, regardless of their partner’s genetic profile remains controversial. This is particularly so in the ultra-Orthodox community because it could affect match-making. In neither the general population nor the AJ community has there been uptake of asymptomatic screening for BRCA1/2 mutations or other adult-onset, autosomal dominant conditions to the same extent as carrier screening for childhood onset recessive or x-linked conditions. These experiences have highlighted both the successes and the challenges of genetic screening programs, including lack of knowledge about genetic screening, fears of stigmatization, and logistical challenges (Wiesman et al. 2017).

In contrast to the AJ community, the interpretation of genomic variants in other minority communities has not been well studied. Minority populations are often genetically less well-characterized without the availability of large reference populations, making genomic analysis more challenging (Wang et al. 2008; Bryc et al. 2010). Non-European individuals are largely underrepresented in genomic research, both in human genetic studies and studies of participant experiences with genetics (Kinney et al. 2010; Dorschner et al. 2014; Popejoy and Fullerton 2016; Wynn et al. 2018c; Amendola et al. 2018; Milo Rasouly et al. 2019). The reasons for underrepresentation in scientific research are many and differ across minority populations but are frequently related to obstacles to access, low levels of interest, misinformation or lack of information, lack of time or resources required to participate, and language and cultural barriers (Palmer et al. 2008; George et al. 2014; Nicholson et al. 2015).

The Latino community is an underrepresented population in genomic research. Consistent with other minority populations, barriers to genetic testing and genomic research within the Latino community include less awareness about genetic testing, the relatively high cost of testing, and insufficient time to participate (Wideroff et al. 2003; Sussner et al. 2009). Other barriers to healthcare in general include lack of health insurance and lower trust in the healthcare system than non-Latino/a whites, which may contribute to low research participation (Halbert et al. 2006; Brincks et al. 2010). Finally, language is frequently a barrier, as patient education and research materials are often not available in languages besides English. Despite these obstacles, studies have shown that Latino/a individuals are receptive to genetic services and are interested when offered genetic testing or screening (Catz et al. 2005; Sussner et al. 2009).

As genetic screening becomes increasingly common, both as part of an individual’s medical care and through the use of testing outside of traditional medical care, it is important to understand the preferences and expectations of the entire population, including variation among communities with different experiences with genetics. This information is needed to help identify and guide recommendations for genetic screening to benefit all populations. In this study we describe the experience of a subset of participants of the Columbia Electronic Medical Records and Genomics (eMERGE) genetic screening study. This sub-study was restricted to participants who identified as Ashkenazi Jewish or Latino/a. These populations were chosen because they address the larger eMERGE goal of genetic analysis of ethnically diverse groups and because both communities are served by our institution. We describe the participant-reported experiences of selecting the type of genomic screening results they would like to have, their attitudes about privacy and secrecy of genomic data, and their experiences with learning their screening results. Our study provides insight into the interaction of culture and community on experience with genomic screening for these two populations and can inform future research on this topic in other populations.

Materials and methods

The eMERGE Network is a National Institutes of Health-funded consortium of research institutions focused on integrating biorepositories with electronic health record (EHR) systems for genomic discovery and genomic medicine implementation research (Institute 2018). In phase III of the eMERGE project, approximately 25,000 people were enrolled in parallel eMERGE consortium studies to receive results from genomic sequencing. Protocols and participant eligibility differed across sites, though no other site conducted a study that restricted enrollment to a particular ethnicity or ancestry. This study is a sub-study of the Columbia eMERGE study that offered genomic health screening using targeted gene sequencing/genotyping to adults, unselected for any disease, who identified as Ashkenazi Jewish (AJ) or Latino/a. For this sub-study, we allowed all participants to decide what types of genetic results they wished to receive. The study was approved by the Columbia University Irving Medical Center (CUIMC) Institutional Review Board.

Recruitment and enrollment are described in detail in a prior publication (Milo Rasouly et al. 2019). Briefly, participants were identified through non-random, convenience sampling of adults who identified as Latino/a or AJ, were able to speak and read English or Spanish, and had received medical care at CUIMC. Participants were not selected based on disease status.

Following written consent, participants completed a baseline survey developed for this study, which included demographic questions (Online Resource 1) and solicited their choices, attitudes, and expectations of genetic screening. Participants then received education about genetic screening through the study website, paper documents, or with a genetic counselor, according to their preference. Following education, participants completed a survey in which they provided their choices about the types of genomic results to receive. The choices included the following: conditions with a personal disease risk (PDR) for which there was treatment or prevention that was relatively effective (PDR good treatment) and PDR conditions for which treatment or prevention was not always as effective or beneficial (PDR partial treatment). Participants could choose to receive results regarding whether they were a carrier for a genetic condition, indicating possible increased risk to have a child with a genetic condition not generally associated with a PDR. Carrier results were separated into two categories: carrier results for conditions with full or partial treatment (carrier treatment) and carrier results for conditions without treatment (carrier no treatment). This survey also included the genomic secrecy scale (GSS) (Wynn et al. 2018b), a non-validated scale which asks about the perceived need to withhold genetic risk information, and eMERGE consortium questions about participants’ perceived genetic disease risk, their predicted ability to cope with specific types of results, and concerns about confidentiality of the results. Baseline and choice surveys were completed from June 2016 to September 2017.

Sequencing of 74 genes and genotyping of 24 single nucleotide variants (SNVs) were completed at Baylor Medical Genetics Laboratories on a CLIA and New York State-certified platform (Online Resource 2). The sequencing panel was developed for eMERGE III, and the design process has been previously described in detail (Zouk et al. 2019). Briefly, the 56 genes from the 2013 ACMG secondary finding list were included, and each site nominated additional six genes relevant to their specific aims to make the final list of 64 consensus genes and 109 genes in total. There were 1551 SNVs on the eMERGE III panel of which 14 were consensus SNVs. Participants in this study could choose to receive results for the 64 consensus genes, 10 Columbia-specific genes, 14 consensus SNVs, and 10 Columbia-specific SNVs. The genes and SNVs were associated with a risk for adult-onset cancer, cardiac disease, connective tissue disorders, endocrine disorders, renal disorders, neuromuscular disorders, metabolic disorders, inflammatory disorders, and renal disorders. Pathogenic and likely pathogenic variants were reported. Reports were modified to include only genes and results chosen by the participants. A detailed discussion of the sequencing and interpretation process has been published (Zouk et al. 2019). Carrier testing was performed by Counsyl® laboratories on a CLIA and New York State-certified platform. A complete description of analysis and the conditions is in Online Resource 2. A panel of the full 176 conditions or abbreviated panels of 131 conditions without treatment and 45 conditions with treatment were completed according to the participant’s choice. Genetic screening results were returned to participants from August 2018 to March 2019. Participants received their results according to their pre-testing specified preference—these included phone, secure email, or in-person visit. All participants with a genetic risk who received their results by email also received a follow-up phone call from the study genetic counselor.

Four weeks after participants received their results, they were invited to complete a post-result survey which included questions developed for this study about their understanding of their results and whether the results were consistent with their expectations, and eMERGE consortium questions about their access to the EHR and confidence in the security and privacy of information in the EHR. This survey also assessed any regret related to their decision to participate in the study and decision to receive results (decision regret scale (Brehaut et al. 2003)). Post-result surveys were completed from September 2018 to April 2019.

Results

A total of 341 participants had genetic screening; 140 identified as AJ and 198 identified as Latino/a; three who identified as both AJ and Latino/a were excluded from this analysis. All participants completed the baseline survey, though there was some attrition from the baseline survey to the post-result survey (Table S1). For the AJ participants, 96% of the results were returned, and 87% of those who received their results completed the post-result survey. For the Latino/a participants, 94% of the results were returned, and 85% completed the post-result survey. The AJ and Latino/a groups had similar proportions of participants both older and younger than 45 years but differed in frequency of all other demographic variables. The AJ group had a higher proportion of males, higher average educational attainment, and more frequently reported having prior experience receiving genetic testing or genetic counseling. The proportion of participants in each group enrolled through the different recruitment methods also differed. Most participants chose not to have traditional pre-test genetic counseling as part of the study (Table 1). Categorical variables are presented as frequencies (%), counts, and proportions, and continuous variables are summarized as means ± SD or medians (interquartile range), grouped by participants who identified as AJ and Latino/a.

Table 1.

Demographics of participants (n = 338) who completed the baseline questionnaire and had sequencing by Ashkenazi Jewish (AJ) or Latino/a (L) identity

AJ L
N % N %
Totala 140 198
Male 56 40% 35 18%
Born in the USA (n = 336) 130 93% 75 38%
Spanish speaking 0 0% 80 40%
< HS (n = 335) 11 8% 58 30%
< 45 years 61 44% 82 41%
Prior genetic counseling/testing (n = 326) 33 24% 23 12%
Study genetic counseling 10 7% 6 3%
Very religious (n = 327) 30 22% 21 11%
Religion (n = 336)
  Catholic 1 1% 114 58%
  Protestant 0 0% 8 4%
  Christian other 0 0% 19 10%
  Church of Latter-day Saints 1 1% 0 0%
  Buddhist 1 1% 0 0%
  Jewishb 121 87% 0 0%
  Jehovah’s Witness 0 0% 2 1%
  None 8 6% 39 20%
  Other 0 0% 4 2%
  More than one 7 5% 11 6%
Recruitment Method
  Electronic health records 42 30% 20 10%
  Flyer 30 21% 93 47%
  Biobank 31 22% 68 34%
  Community event 37 26% 17 9%
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aThree participants who identified as both AJ and L were excluded

bFour identified as Hasidic

Result choices and baseline survey

AJ participants

The majority of AJ participants chose to receive all personal disease risk results, both those with good and partial treatment, although 15% declined carrier results with available treatment and 12% declined carrier results for diseases without treatment (Table 2). To assess how choices for carrier results might be influenced by whether a participant was of reproductive age, we looked at choices for those ≤ 45 years and > 45 years. AJ participants < 45 years declined some or all carrier results (9%) less frequently than those > 45 years (19%). A small proportion (11%) indicated that they would have preferred a health professional to make the decision about what results to receive (Table 2). AJ participants were most likely to seek advice about which results to learn from their physician (92%) and less so from friends (86%) and family (69%).

Table 2.

Participant choices for genetic screening results by Ashkenazi Jewish (AJ) or Latino/a identity

AJ Latino/a
N % N %
Choice for genetic screening
PDR with treatment
  Declined 4 3% 7 4%
  Elected to receive 131 97% 180 96%
  NR 5 11
PDR with partial treatment
  Declined 6 4% 11 6%
  Elected to receive 129 96% 175 94%
  NR 5 12
Carrier with treatment
  Declined 20 15% 52 28%
  Elected to receive 115 85% 135 72%
  NR 5 12
Carrier without treatment
  Declined 16 12% 48 26%
  Elected to receive 119 88% 139 74%
  NR 5 11
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Personal disease risk (PDR), not reported (NR)

Over half (53%) of AJ participants anticipated that they would have a genetic risk identified on the screening, but few (4%) indicated that they would be disappointed if they did not have a risk identified. Almost all AJ individuals (94%) also reported feeling extremely or quite confident in their ability to cope with learning; they were at increased risk for a genetic disease with treatment, albeit less confident (65% indicated extremely or quite confident) in their ability to cope with a genetic disease for which there was no treatment (not a type of result that was returned in this study). Only 10% of AJ participants were quite or extremely concerned that their genetic screening results would not stay confidential and even fewer were concerned about stigma or negative effects on family relations if the results were shared (Table 3). On average, AJ participants’ genomic secrecy scale (GSS) scores, reflecting concern about the need to keep hypothetical personal genetic risk information secret, were 2.7 (SD 0.65, range 1–4), indicating a moderate need to keep this information secret.

Table 3.

Participant responses pre-results by Ashkenazi Jewish (AJ) or Latino/a (L) identity

AJ L
N % N %
How likely or unlikely…
Do you believe it is that research study will find in your genomic screening a genetic variant that indicates increased risk of a genetic condition? Likely or very likely 72 51% 75 37%
Unlikely or very unlikely 63 45% 108 53%
Would you be disappointed to learn that you do not have any genetic variants that indicate an increased risk of a genetic condition? Likely or very likely 5 4% 19 10%
Unlikely or very unlikely 129 96% 162 90%
How confident are you…
In your ability to cope with learning that you have a genetic variant that increases your risk for a treatable condition? Confident or very confident 124 94% 165 90%
Slightly or not at all confident 8 6% 18 10%
In your ability to cope with learning that you have a genetic variant that increases your risk for a condition without treatment? Confident or very confident 82 65% 125 73%
Slightly or not at all confident 44 35% 47 27%
How concerned are you…
That your genome screening may not stay confidential? Slightly or not at all 121 90% 131 72%
Extremely or quite a bit 13 10% 52 28%
That you will feel labeled or singled out if you told other people you had a genetic variant that increases your risk of a condition? Slightly or not at all 126 95% 152 84%
Extremely or quite a bit 6 5% 29 16%
That sharing your genomic screening results with blood relatives might negatively affect your family relationships? Slightly or not at all 131 98% 163 91%
Extremely or quite a bit 3 2% 16 9%
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Latino/a participants

The majority of Latino participants chose to receive all personal disease risk results, both those with good and partial treatment. A little over a quarter of Latino/a participants declined carrier results (27% with treatment; 26% without treatment) (Table 2). Latino/a participants > 45 years more frequently declined some or all carrier results (35%) than < 45 years (6%). A quarter (25%) indicated that they would have preferred a healthcare provider make the choice about what results to receive, and many responded that they sought the advice about what results to learn from their physician (89%), friends (82%), and family (74%) (Table 2).

Forty-one percent of Latino/a individuals anticipated that they would have a genetic risk identified on the screening, and 10% indicated that they would be disappointed if they did not have a risk identified. Ninety percent of Latino/a individuals reported feeling extremely or quite confident in their ability to cope with learning they were at increased risk for a genetic disease with treatment, and 73% indicated this level of confidence in their ability to cope with a genetic disease for which there was no treatment (not a type of result that was returned through this study). A modest proportion of Latino/a participants (28%) responded that they were quite or extremely concerned that their genetic screening results would not stay confidential and a smaller number of Latino/a participants reported that they were quite or extremely concerned about the potential of being labeled (16%) or the results negatively affecting their family relationships (9%) if shared (Table 3). On average, Latino/a participants’ genomic secrecy s cale (GSS) scores were 2.4 (SD 0.63, range 1–4), indicating a moderate need to keep genomic information secret.

Genetic screening results

Twenty-three AJ participants (16%) and seven Latino participants (4%) had genetic risks identified on the genetic screen (Table 2). Most (17/23) of the variants identified in the AJ participants were AJ founder mutations (APC I1307K, BRCA1 68_69delAG, BRCA1 5266dupC, BRCA2 546delT, CHEK2 S428F). One Latino/a participant was also found to have an AJ founder mutation (BRCA2 546delT). Four of the AJ participants were aware of their results prior to the study. This included one woman with BRCA1, two women with BRCA2, and one man who was aware of the BRCA1 variant but unaware of the CHEK2 S428F variant (Table 4). One male AJ participant with an APC I1307K colon cancer risk variant declined to learn about personal genetic risk and only received carrier results. Carrier sequencing was completed only on participants who consented to learn these results, and therefore, the frequency of carrier results for the full cohort is unknown. Of those who consented to receive some or all carrier results, 77% AJ and 54% Latino/a participants had carrier results.

Table 4.

Genetic sequencing results of the participants by Ashkenazi Jewish (AJ) and Latino/a (L) identity

Results AJ L
N % N %
Total 140 198
Personal disease risk (PDR) 23 16% 7 4%
  PDR with treatment 21 7
    APC I1307K colon cancer risk 9 3
    BRCA1 hereditary breast and ovarian cancer 3 1
    BRCA2a hereditary breast and ovarian cancer 4 1
    CHEK2a breast cancer risk 5 0
    DSP cardiomyopathy risk 0 1
    MC4R obesity risk 1 1
  PDR with partial treatment 2 0
    KCNE2 arrhythmia risk 1 0
    SCN5A arrhythmia and cardiomyopathy risk 1 0
Any carrierb 92 77% 78 54%
Carrier without treatmentb 88 77% 70 55%
Carrier with treatmentb 91 77% 72 55%
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aOne participant received both CHEK2 and BRCA2 pathogenic variants

bCarrier screening was not completed for participants who declined it, so denominator is the number of people who elected these results

Result disclosure took place according to the pre-test specified preference of the participant—phone, secure email, or in-person visit. Fifty-two percent of AJ participants chose to receive results by secure email. Latino/a participants chose to receive results in the three ways equally. All participants with a genetic risk who received their results by email also received a follow-up phone call from the study genetic counselor. Four results were not returned because the participant had died. One of the four deceased participants had a positive result, a MC4R risk variant for obesity. Seven participants declined to learn their results (none had a personal genetic risk identified), and 19 participants were lost to follow-up.

Post-result survey

AJ participants

When asked how their results compared with their expectations, the most common response among AJ participants was that they expected to learn that they were at risk for more conditions (45%), while 40% responded that the results were what they expected, and 16% responded that they expected fewer results. Most AJ participants felt good that they had a choice about what results they received (68%). Few indicated that they would have preferred a health professional to make this decision (n = 5), including just two of the fifteen AJ participants who indicated in their pre-results that they would have preferred a healthcare provider to make this decision. Four of the AJ participants who answered this way pre-result were among the 20 participants whose post-result responded that they did not have the knowledge to make the decision. Most AJ participants endorsed statements that they understood their results, though less so for statements about the steps they need to take to stay healthy and what their results might mean for their reproductive choices. Most of the AJ participants who had no personal history of colon cancer, elected to learn about colon cancer risk, and were not identified at elevated risk correctly answered that they still had a risk for colon cancer (84%). When looking at participants who received carrier results, only a moderate number (35%) correctly answered that their first-degree relatives had a 50% chance of being a carrier of the same condition (Table 5).

Table 5.

Participant responses to questions about their attitudes and understanding of their genetic screening results by Ashkenazi Jewish (AJ) or Latino/a (L) identity

AJ L
N % N %
How did your results compare to what you expected?a
They were what I expected 43 39% 60 46%
I expected to learn I was at risk for more conditions 49 45% 54 42%
I expected to learn I was at risk for fewer conditions 17 16% 16 12%
How did you feel about having the choice about the types of results to receive?a
I liked having the choice 75 68% 112 82%
I would have preferred a health professional to make this decision 5 5% 4 3%
I do not think I had the knowledge to make this decision 15 14% 9 7%
I do not know 15 14% 12 9%
How much do you disagree or agree with the following statements about yourunderstanding of your results?a
The results were clearly explained to me Agree or strongly agree 105 91% 142 94%
Disagree or strongly disagree 11 9% 9 6%
I feel I understand all of the results Agree or strongly agree 102 89% 138 93%
Disagree or strongly disagree 12 11% 11 7%
I understand what the results mean for my health Agree or strongly agree 106 93% 138 93%
Disagree or strongly disagree 8 7% 10 7%
I understand how the genomic test results affected my risk to develop a disease Agree or strongly agree 103 89% 127 85%
Disagree or strongly disagree 13 11% 22 15%
I feel like I understand the steps I need to take to stay healthy Agree or strongly agree 86 74% 137 91%
Disagree or strongly disagree 30 26% 13 9%
I understand what the results mean for my plans to have a child or more children Agree or strongly agree 65 57% 100 67%
Disagree or strongly disagree 50 43% 49 33%
I understand how the results might be important for my other family members Agree or strongly agree 103 89% 145 96%
Disagree or strongly disagree 13 11% 6 4%
I feel confident explaining the results to my family/friends Agree or strongly agree 98 84% 137 92%
Disagree or strongly disagree 18 16% 12 8%
What is the risk that your sibling is a carrier of the same condition that youwere found to carry?b
0% (no risk) 3 5% 5 9%
25% risk 16 25% 10 19%
50% risk 22 35% 13 24%
100% (certain to be a carrier) 3 5% 3 6%
I do not know 19 30% 23 43%
What is your risk for colon cancer?c
I have no risk 2 2% 12 9%
I remain at risk 85 84% 94 73%
I do not know 14 14% 23 18%
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The bolded answers are the correct answers to these questions

aAll participants regardless of the results received

bOnly participants who did not have an identified genetic risk for colon cancer and did not response that they had a personal history of colon cancer

cOnly participants who received carrier results

Few AJ participants had regret (6%) about participating and learning results in the study. This included two AJ participants with genetic risk results: a male AJ participant who received a CHEK2 S428F associated with female breast cancer risk and a female AJ participant who learned she had the APC I1307K colon cancer risk allele. Finally, when asked questions about access and security of genetic information in the EHR after they received results, AJ participants more strongly endorsed the need for access and moderately endorsed their confidence in the safeguards to protect this information (Table 6).

Table 6.

Participant responses, post-results, to questions about access and privacy of electronic health records by Ashkenazi Jewish (AJ) or Latino/a (L) identity

Level of importance in the ability to access and share electronicallya
Doctors and other healthcare providers should be able to share your medical information with each other electronically Very or somewhat important 105 94% 132 90%
Not important 7 6% 15 10%
You should be able to get to your own medical information electronically Very or somewhat important 109 97% 135 93%
Not important 3 3% 10 7%
Level of confidence in the security of electronic medical recordsa
How confident are you that safeguards (including the use of technology) are in place to protect your medical records from being seen by people who aren’t permitted to see them? Having safeguards (including the use of technology) in place has to do with the security of your medical records Very or somewhat confident 84 74% 127 88%
Not confident 29 26% 18 12%
How confident are you in the security of genetic information that is in your electronic medical/health record? Very or somewhat confident 88 78% 133 90%
Not confident 25 22% 14 10%
How confident are you that you have some say in who is allowed to collect, use, and share your medical information? Having a say in who can collect, use, and share your medical information has to do with the privacy of your records Very or somewhat confident 95 84% 133 92%
Not confident 18 16% 11 8%
How confident are you in the privacy of genetic information that is in your electronic medical/health record? Very or somewhat confident 90 80% 133 91%
Not confident 23 20% 13 9%
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aAll participants regardless of the results received

Responses include all participants regardless of the results they received

Latino/a participants

The Latino/a participants equally responded that the results were what they expected (46%) and that they expected to learn more results (42%). Most (82%) indicated that they liked making the choice about the results they received. Of the 15 Latino/a participants who responded in their pre-results that they would have preferred a healthcare provider to make the decision, only one responded this way after receiving results. Latino/a participants endorsed statements about their understanding of results (Table 5). When looking at those who had no personal history of colon cancer, who elected to learn about colon cancer risk, 73% correctly answered that they were still at risk. Only 24% of Latino/a participants who received carrier results correctly answered the question about their sibling’s risk (Table 5).

Few (11%) Latino/a participants had any regret about participating and learning genetic results through the study. Those expressing regret included one Latina participant who had received a DSP cardiomyopathy risk variant. Latino/a participants endorsed the ability to access and share electronic medical records and expressed confidence in the privacy of genetic information in electronic medical records when asked these questions after receiving results (Table 6).

Discussion

We describe the reported preferences and attitudes of healthy AJ and Latino/a individuals in a study of genomic screening for personal disease risk and reproductive risk. Overall, both AJ and Latino/a participants expressed high levels of satisfaction with receiving genetic information from this study, and most felt that they understood the results and health implications, which is notable given that most participants opted out of traditional pre-test genetic counseling and education and that participants had control over which results to receive and how to receive them. Participants had options to receive results related both to personal disease risk and reproductive risk and to learn about these results by email or from a genetic counselor. Even though, consistent with other studies, participants overestimated the likelihood of having a genetic risk (Wynn et al. 2018b), after they received the results, very few had regret or concerns about making the choice themselves rather than having a healthcare provider make the decision. The results support allowing research participants to make choices and provide some evidence that self-guided genetic screening might be an achievable and appropriate route for some individuals. Correctly triaging for whom this will and will not work, which likely varies on multiple known and unknown factors, will take more research.

Overall, the AJ and Latino/a participants’ genetic screening choices were similar and consistent with prior studies in which participants overwhelmingly elect to receive most or all genetic results (Wynn et al. 2018b; Zoltick et al. 2019). The majority of participants in our study elected to receive most results, regardless of Latino/a or AJ ancestry. These similarities in preferences between groups may be because these participants self-selected to participate in a genetic screening study. At least one study documented differences in genetic result choices by ethnicity. Fiallos and colleagues (2017) in a study of adults with suspected undiagnosed genetic conditions found that participants who were non-European more frequently declined secondary findings compared with European, non-Latino/a participants. There are multiple differences in participants and in the protocol between the Fiallos et al. study and ours (e.g., in their study the choice was made with a genetic counselor or geneticist)—making it difficult to reach a conclusion about why their results differ. However, their results suggest that depending on the circumstances, ethnicity and cultural background may influence choice.

A minority of the participants were found to have a result indicating genetic risk. Consistent with the higher frequency of founder mutations in the genes tested, AJ participants more frequently had a genetic risk (16%) and/or were found to be a carrier (77%) of a condition than the Latino/a participants. The majority of the variants identified are associated with a moderately increased risk for cancer (APC I1307K and CHEK2 S428F) and are not classic monogenic diseases of high risk. Only seven of the Latino/a participants (4%) had a genetic risk, and only slightly more than half (55%) of those who elected to learn carrier results were found to be carriers. This lower frequency may be reflective of our limited understanding of genetic variants in non-European populations or may reflect the greater diversity of populations that identify as Latino/a. This difference highlights the need to continue to proactively recruit minorities into genetic studies.

The majority of participants who had negative genetic screens for colon cancer recognized that they still had a risk for colon cancer, regardless of whether they spoke with a genetic counselor. There is a concern regarding genetic screening that negative results will be incorrectly construed as an absence of risk (Wynn et al. 2018a), leading people to discontinue screening or reduce healthy behaviors. Indeed, a minority of participants incorrectly interpreted their negative genetic results as indicating no disease risk. Qualitative studies of these participants may help to identify those most at risk of misunderstanding—in particular those for whom result disclosure in the absence of a healthcare provider is not sufficient—and design measures to prevent this.

The model of shared decision-making, during which the patient and physician explore the available evidence and consider options together to help the patient achieve the best decision, is central to informed consent for genetic testing (Elwyn et al. 2000). In contrast, our study allowed participants to make decisions without the direct guidance of a healthcare professional and most elected to do so. However, initially a quarter of Latino/s participants and 11% of AJ participants indicated that they would have preferred a healthcare provider make the decision about the results to receive, suggesting that there was some discomfort/inexperience with our study’s process. Other studies have demonstrated that Latino/a patient/participants have a stronger preference for the healthcare provider to have a predominant role in medical decisions than non-Latino/a, European-ancestry patient/participants (Katz et al. 2011; Riffin et al. 2016). However, when asked after they received results, few participants, regardless of ancestry, indicated a preference for a healthcare provider to have made the choice, likely a reflection of the general comfort with their results and therefore their choice, despite the initial discomfort.

There were very modest differences in responses to questions about the need to keep genetic information secret. The genetic secrecy scale asked participants about their perceived need to hide genetic information from their family, peers, employer, and insurance. This higher level of desired secrecy may be reflective of the complex concerns that more conservative parts of the AJ community have with matching for marriage. There is a “genetic responsibility” or “genetic citizenship” in the setting of carrier screening (Davis 2004), but having a dominantly inherited genetic disease risk has the potential to be used against individuals and their families (Raz and Vizner 2008; Frumkin et al. 2011). These issues and underlying origins are complex and likely play an important role for some orthodox AJ participants regarding participation in genomic research.

In contrast to the personal need to hide information, Latino/a participants were more concerned about the confidentiality of their genetic data. Mistrust and confidentiality concerns with the medical system have been reported among Latino/a and other minority communities (Halbert et al. 2006; Schwei et al. 2014). Comparatively, when asked about concerns regarding security of the genetic results in the EHR following receipt of their results, AJ participants had greater concerns. This may reflect a different understanding of cybersecurity between the two groups, rather than cultural differences. Our study’s AJ participants in general were more tech savvy, i.e., they more frequently elected to learn their results by email and complete the study online, and therefore may be more aware of cybersecurity issues. So, while Latino/a participants’ concerns about confidentiality are reflective of their community’s distrust of the larger healthcare system, AJ participants’ concerns about security of the EHR may or may not be culturally driven.

Limitations

We describe the self-reported experience of AJ and Latino participants from a genomic screening study. Enrollment and survey completion and return of results took place over a period of over 2 years. The term Latino/a is used to describe a heterogeneous community that differs in ancestry and culture. While we did not ask about the country of origin, it is likely that most participants were of Dominican or Puerto Rican ancestry, as these are the two most prevalent Latino/a communities in the Washington Heights area of New York. Similarly, people who identified as AJ have different cultures and religiosity. Specifically, while 23% of our AJ participants identified as very religious, only four participants identified as Haredi (“ultra-Orthodox”) or Hasidic. AJ individuals from more religious communities and Latino/a individuals from other parts of the world may have different views and experiences. This is a small study, and responses may reflect unknown variations within the two groups.

Implications

There is currently a push for greater diversity within genomic research (Amendola et al. 2018), and this study supports the view that minorities have unique experiences that need to be explored. Culture, ethnicity, and religion influence how people make decisions about genetic testing and their experiences with receiving results. Taken together, this research highlights the unique needs of two communities with different experiences with genetic screening. It confirms a strong interest in genetic screening for personal disease risk and carrier screening, comfort with non-traditional implementation of this testing, and varying concerns regarding the role of healthcare providers in making decisions about genetic testing, as well as about the security and privacy of genetic data. Thus, a one-size-fits-all approach may not be appropriate. Additional care must be taken when designing population-based screening studies to meet the needs of potential participants.

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Acknowledgements

We would like to thank the participants of this research study. We also thank Michelle Kowanda, Stephanie Tang, Ian Halim, and Anoushka Sinha for assistance with recruiting participants.

Authors’ contributions

WKC, PSA, and CW conceived the study. JW, PSA, WKC, and CW designed the study and developed study materials. GL generated genetic results. JW, AE, and BH enrolled participants and collected data. JW, CC, and AERW analyzed data and interpreted the results. AERW and JW wrote the manuscript. All authors contributed and discussed the results and critically reviewed the manuscript.

Funding information

Research was funded by U01HG008680 (PIs: C.W., George Hripcsak, and Ali G. Gharavi) and UL1TR001873 (PI: Reilly), RM1HG007257 (PI: Appelbaum), U54 TR00187 (PI: Reilly), and 5TL1TR001875-02 (PI: Ginsberg).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest. Springer Nature COI is attached.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

This article does not contain any studies with animals performed by any of the authors.

Informed consent

Informed consent was obtained from all participants included in the study.

Footnotes

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

References

  1. ACMG Board of Directors (2019) The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med 21:1467–1468. 10.1038/s41436-019-0502-5 [DOI] [PubMed]
  2. Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire A, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, CSER consortium. Plon SE, Jarvik GP. The clinical sequencing evidence-generating research consortium: integrating genomic sequencing in diverse and medically underserved populations. Am J Hum Genet. 2018;103:319–327. doi: 10.1016/j.ajhg.2018.08.007. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe’er I, Ostrer H, Oddoux C. Expanded genetic screening panel for the Ashkenazi Jewish population. Genet Med. 2016;18:522–528. doi: 10.1038/gim.2015.123. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bates M. Direct-to-consumer genetic testing: is the public ready for simple, at-home DNA tests to detect disease risk? IEEE Pulse. 2018;9:11–14. doi: 10.1109/MPUL.2018.2869315. [DOI] [PubMed] [Google Scholar]
  5. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D’Alessandro LCA, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016;18:1075–1084. doi: 10.1038/gim.2016.17. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Brehaut JC, O’Connor AM, Wood TJ, et al. Validation of a decision regret scale. Med Decis Mak. 2003;23:281–292. doi: 10.1177/0272989X03256005. [DOI] [PubMed] [Google Scholar]
  7. Brincks AM, Feaster DJ, Burns MJ, Mitrani VB. The influence of health locus of control on the patient-provider relationship. Psychol Heal Med. 2010;15:720–728. doi: 10.1016/j.dcn.2011.01.002.The. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Bryc K, Velez C, Karafet T, Moreno-Estrada A, Reynolds A, Auton A, Hammer M, Bustamante CD, Ostrer H. Genome-wide patterns of population structure and admixture among Hispanic/Latino populations. Proc Natl Acad Sci. 2010;107:8954–8961. doi: 10.1073/pnas.0914618107. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Carmi S, Hui KY, Kochav E, Liu X, Xue J, Grady F, Guha S, Upadhyay K, Ben-Avraham D, Mukherjee S, Bowen BM, Thomas T, Vijai J, Cruts M, Froyen G, Lambrechts D, Plaisance S, van Broeckhoven C, van Damme P, van Marck H, Barzilai N, Darvasi A, Offit K, Bressman S, Ozelius LJ, Peter I, Cho JH, Ostrer H, Atzmon G, Clark LN, Lencz T, Pe’er I. Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun. 2014;5:1–9. doi: 10.1038/ncomms5835. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Catchpool M, Ramchand J, Martyn M, Hare DL, James PA, Trainer AH, Knight J, Goranitis I. A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy. Genet Med. 2019;21:2815–2822. doi: 10.1038/s41436-019-0582-2. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Catz DS, Green NS, Tobin JN, Lloyd-Puryear MA, Kyler P, Umemoto A, Cernoch J, Brown R, Wolman F. Attitudes about genetics in underserved, culturally diverse populations. Commun Genet. 2005;8:161–172. doi: 10.1159/000086759. [DOI] [PubMed] [Google Scholar]
  12. Christensen KD, Roberts JS, Zikmund-Fisher BJ, Kardia S, McBride CM, Linnenbringer E, Green RC, for the REVEAL Study Group Associations between self-referral and health behavior responses to genetic risk information. Genome Med. 2015;7:10. doi: 10.1186/s13073-014-0124-0. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Committee on Genetics. Romero S, Biggio JR, Jr, et al. Carrier screening for genetic conditions. Obstet Gynecol. 2017;129:e41–e55. doi: 10.1097/AOG.0000000000001952. [DOI] [PubMed] [Google Scholar]
  14. Davis DS. Genetic research and communal narratives. Hast Cent Rep. 2004;34:40–49. doi: 10.2307/3528692. [DOI] [PubMed] [Google Scholar]
  15. Dorschner MO, Amendola LM, Shirts BH, et al. Refining the structure and content of clinical genomic reports. Am J Med Genet C Semin Med Genet. 2014;166c:85–92. doi: 10.1002/ajmg.c.31395. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Ekstein J, Katzenstein H. The dor Yeshorim story: community-based carrier screening for Tay-Sachs disease. Adv Genet. 2001;44:297–310. doi: 10.1016/S0065-2660(01)44087-9. [DOI] [PubMed] [Google Scholar]
  17. Elwyn G, Gray J, Clarke A. Shared decision making and non-directiveness in genetic counselling. J Med Genet. 2000;37:135–138. doi: 10.1136/jmg.37.2.135. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Etchegary H, Miller F, Delaat S, et al. Decision-making about inherited cancer risk: exploring dimensions of genetic responsibility. J Genet Couns. 2009;18:252–264. doi: 10.1007/s10897-009-9218-z. [DOI] [PubMed] [Google Scholar]
  19. Fiallos D, Applegate C, Mathews DJh, Bollinger Juli, Bergner AL, James CA (2017) Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian. Eur J Hum Genet 25(5):530–537. 10.1038/ejhg.2017.21 [DOI] [PMC free article] [PubMed]
  20. Frumkin A, Raz AE, Plesser-Duvdevani M, Lieberman S. &quot;the Most important test You’ll ever take&quot;?: attitudes toward confidential carrier matching and open individual testing among modern-religious Jews in Israel. Soc Sci Med. 2011;73:1741–1747. doi: 10.1016/j.socscimed.2011.09.031. [DOI] [PubMed] [Google Scholar]
  21. Gabai-Kapara E, Lahad A, Kaufman B, Friedman E, Segev S, Renbaum P, Beeri R, Gal M, Grinshpun-Cohen J, Djemal K, Mandell JB, Lee MK, Beller U, Catane R, King MC, Levy-Lahad E. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014;111:14205–14210. doi: 10.1073/pnas.1415979111. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. George S, Duran N, Norris K. A systematic review of barriers and facilitators to minority research participation among African Americans, Latinos, Asian Americans, and Pacific islanders. Am J Public Health. 2014;104:e16–e31. doi: 10.2105/AJPH.2013.301706. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013;15:482–483. doi: 10.1038/gim.2013.47. [DOI] [PubMed] [Google Scholar]
  24. Halbert CH, Armstrong K, Gandy OH, Jr, Shaker L. Racial differences in trust in health care providers. Arch Intern Med. 2006;166:896–901. doi: 10.1001/archinte.166.8.896. [DOI] [PubMed] [Google Scholar]
  25. Hallam S, Nelson H, Greger V, Perreault-Micale C, Davie J, Faulkner N, Neitzel D, Casey K, Umbarger MA, Chennagiri N, Kramer AC, Porreca GJ, Kennedy CJ. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. J Mol Diagn. 2014;16:180–189. doi: 10.1016/j.jmoldx.2013.10.006. [DOI] [PubMed] [Google Scholar]
  26. Holtkamp KCA, van Maarle MC, Schouten MJE, Dondorp WJ, Lakeman P, Henneman L. Do people from the Jewish community prefer ancestry-based or pan-ethnic expanded carrier screening? Eur J Hum Genet. 2016;24:171–177. doi: 10.1038/ejhg.2015.97. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Institute NHGR (2018) eMERGE Network. https://emerge.mc.vanderbilt.edu/
  28. Kalia SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19:249–255. doi: 10.1038/gim.2016.190. [DOI] [PubMed] [Google Scholar]
  29. Katz JN, Lyons N, Wolff LS, Silverman J, Emrani P, Holt HL, Corbett KL, Escalante A, Losina E. Medical decision-making among Hispanics and non-Hispanic whites with chronic back and knee pain: a qualitative study. BMC Musculoskelet Disord. 2011;12:78. doi: 10.1186/1471-2474-12-78. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Kinney AY, Gammon A, Coxworth J, Simonsen SE, Arce-Laretta M. Exploring attitudes, beliefs, and communication preferences of Latino community members regarding BRCA1/2 mutation testing and preventive strategies. Genet Med. 2010;12:105–115. doi: 10.1097/GIM.0b013e3181c9af2d. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Leib JR, Gollust SE, Hull SC, Wilfond BS. Carrier screening panels for Ashkenazi Jews: is more better? Genet Med. 2005;7:185–190. doi: 10.1097/01.GIM.0000156527.87525.8F. [DOI] [PubMed] [Google Scholar]
  32. Manchanda R, Loggenberg K, Sanderson S, Burnell M, Wardle J, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, McGuire A, Beller U, Menon U, Jacobs I. Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial. J Natl Cancer Inst. 2015;107:1–11. doi: 10.1093/jnci/dju379. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. McBride CM, Koehly LM, Sanderson SC, Kaphingst KA. The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors? Annu Rev Public Health. 2010;31:89–103. doi: 10.1146/annurev.publhealth.012809.103532. [DOI] [PubMed] [Google Scholar]
  34. Milo Rasouly H, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK. Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study. Genet Med. 2019;21:2371–2380. doi: 10.1038/s41436-019-0497-y. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Nicholson LM, Schwirian PM, Groner JA. Recruitment and retention strategies in clinical studies with low-income and minority populations: Progress from 2004-2014. Contemp Clin Trials. 2015;45:34–40. doi: 10.1016/j.cct.2015.07.008. [DOI] [PubMed] [Google Scholar]
  36. Nussbaum RL, Haverfield E, Esplin ED, Aradhya S (2019) Response to “The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)”. Genet Med [DOI] [PubMed]
  37. Ostrer H, Skorecki K. The population genetics of the Jewish people. Hum Genet. 2013;132:119–127. doi: 10.1007/s00439-012-1235-6. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Palmer CGS, Martinez A, Fox M, Sininger Y, Grody WW, Schimmenti LA. Ethnic differences in parental perceptions of genetic testing for deaf infants. J Genet Couns. 2008;17:129–138. doi: 10.1007/s10897-007-9134-z. [DOI] [PubMed] [Google Scholar]
  39. Peyser A, Singer T, Mullin C, Bristow SL, Gamma A, Onel K, Hershlag A. Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates. Genet Med. 2018;21:1400–1406. doi: 10.1038/s41436-018-0331-y. [DOI] [PubMed] [Google Scholar]
  40. Popejoy AB, Fullerton SM. Genomics is failing on diversity. Nature. 2016;538:161–164. doi: 10.1038/538161a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  41. Raz AE, Vizner Y. Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma. Soc Sci Med. 2008;67:1361–1369. doi: 10.1016/j.socscimed.2008.07.011. [DOI] [PubMed] [Google Scholar]
  42. Riffin C, Pillemer K, Reid MC, Lӧckenhoff CE. Decision support preferences among Hispanic and non-Hispanic white older adults with chronic musculoskeletal pain. J Gerontol Ser B. 2016;71:914–925. doi: 10.1093/geronb/gbv071. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. Rini C, Khan CM, Moore E, Roche MI, Evans JP, Berg JS, Powell BC, Corbie-Smith G, Foreman AKM, Griesemer I, Lee K, O’Daniel JM, Henderson GE. The who, what, and why of research participants’ intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study. Genet Med. 2018;20:760–769. doi: 10.1038/gim.2017.176. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Robinson JO, Wynn J, Biesecker B, Biesecker LG, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, McGuire AL, Hart MR, Griesemer I, Patrick DL, Rini C, Veenstra D, Cronin AM, Gray SW. Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven clinical sequencing exploratory research (CSER) consortium studies. Genet Med. 2019;21:2781–2790. doi: 10.1038/s41436-019-0565-3. [DOI] [PMC free article] [PubMed] [Google Scholar]
  45. Schwei RJ, Kadunc K, Nguyen AL, Jacobs EA. Impact of sociodemographic factors and previous interactions with the health care system on institutional trust in three racial/ethnic groups. Patient Educ Couns. 2014;96:333–338. doi: 10.1016/j.pec.2014.06.003. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Sun L, Brentnall A, Patel S, Buist DSM, Bowles EJA, Evans DGR, Eccles D, Hopper J, Li S, Southey M, Duffy S, Cuzick J, dos Santos Silva I, Miners A, Sadique Z, Yang L, Legood R, Manchanda R. A cost-effectiveness analysis of multigene testing for all patients with breast cancer. JAMA Oncol. 2019;5:1718. doi: 10.1001/jamaoncol.2019.3323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  47. Sussner KM, Thompson HS, Valdimarsdottir HB, Redd WH, Jandorf L. Acculturation and familiarity with, attitudes towards and beliefs about genetic testing for cancer risk within Latinas in East Harlem, New York City. J Genet Couns. 2009;18:60–71. doi: 10.1007/s10897-008-9182-z. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Townsend A, Adam S, Birch PH, et al. “I want to know what’s in Pandora’s box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am J Med Genet A. 2012;158a:2519–2525. doi: 10.1002/ajmg.a.35554. [DOI] [PubMed] [Google Scholar]
  49. Wang S, Ray N, Rojas W, Parra MV, Bedoya G, Gallo C, Poletti G, Mazzotti G, Hill K, Hurtado AM, Camrena B, Nicolini H, Klitz W, Barrantes R, Molina JA, Freimer NB, Bortolini MC, Salzano FM, Petzl-Erler ML, Tsuneto LT, Dipierri JE, Alfaro EL, Bailliet G, Bianchi NO, Llop E, Rothhammer F, Excoffier L, Ruiz-Linares A. Geographic patterns of genome admixture in Latin American mestizos. PLoS Genet. 2008;4:1–9. doi: 10.1371/journal.pgen.1000037. [DOI] [PMC free article] [PubMed] [Google Scholar]
  50. Wideroff L, Vadaparampil ST, Breen N, et al. Awareness of genetic testing for increased cancer risk in the year 2000 National Health Interview Survey. Commun Genet. 2003;6:147–156. doi: 10.1159/000078162. [DOI] [PubMed] [Google Scholar]
  51. Wiesman C, Rose E, Grant A, Zimilover A, Klugman S, Schreiber-Agus N. Experiences from a pilot program bringing BRCA1/2 genetic screening to theUS Ashkenazi Jewish population. Genet Med. 2017;19:529–536. doi: 10.1038/gim.2016.154. [DOI] [PubMed] [Google Scholar]
  52. Wynn J, Chung WK. 23andMe paves the way for direct-to-consumer genetic health risk tests of limited clinical utility. Ann Intern Med. 2017;167:125–126. doi: 10.7326/M17-1045. [DOI] [PubMed] [Google Scholar]
  53. Wynn J, Martinez J, Duong J, Chiuzan C, Phelan JC, Fyer A, Klitzman RL, Appelbaum PS, Chung WK. Research participants’ preferences for hypothetical secondary results from genomic research. J Genet Couns. 2016;26:841–851. doi: 10.1007/s10897-016-0059-2. [DOI] [PubMed] [Google Scholar]
  54. Wynn J, Lewis K, Amendola LM, Bernhardt BA, Biswas S, Joshi M, McMullen C, Scollon S. Clinical providers’ experiences with returning results from genomic sequencing: an interview study. BMC Med Genet. 2018;11:45. doi: 10.1186/s12920-018-0360-z. [DOI] [PMC free article] [PubMed] [Google Scholar]
  55. Wynn J, Martinez J, Bulafka J, Duong J, Zhang Y, Chiuzan C, Preti J, Cremona ML, Jobanputra V, Fyer AJ, Klitzman RL, Appelbaum PS, Chung WK. Impact of receiving secondary results from genomic research: a 12-month longitudinal study. J Genet Couns. 2018;27:709–722. doi: 10.1007/s10897-017-0172-x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  56. Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Appelbaum PS, Lichter-Konecki U, Anyane-Yeboa K, Iglesias A, Chung WK. Diagnostic exome sequencing in children: a survey of parental understanding, experience and psychological impact. Clin Genet. 2018;93:1039–1048. doi: 10.1111/cge.13200. [DOI] [PMC free article] [PubMed] [Google Scholar]
  57. Yao R, Goetzinger KR. Genetic carrier screening in the twenty-first century. Clin Lab Med. 2016;36:277–288. doi: 10.1016/j.cll.2016.01.003. [DOI] [PubMed] [Google Scholar]
  58. Zoltick ES, Linderman MD, McGinniss MA, et al. Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium. Genome Med. 2019;11:10. doi: 10.1186/s13073-019-0619-9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  59. Zouk H, Venner E, Lennon NJ, Muzny DM, Abrams D, Adunyah S, Albertson-Junkans L, Ames DC, Appelbaum P, Aronson S, Aufox S, Babb LJ, Balasubramanian A, Bangash H, Basford M, Bastarache L, Baxter S, Behr M, Benoit B, Bhoj E, Bielinski SJ, Bland ST, Blout C, Borthwick K, Bottinger EP, Bowser M, Brand H, Brilliant M, Brodeur W, Caraballo P, Carrell D, Carroll A, Almoguera B, Castillo L, Castro V, Chandanavelli G, Chiang T, Chisholm RL, Christensen KD, Chung W, Chute CG, City B, Cobb BL, Connolly JJ, Crane P, Crew K, Crosslin D, de Andrade M, de la Cruz J, Denson S, Denny J, DeSmet T, Dikilitas O, Friedrich C, Fullerton SM, Funke B, Gabriel S, Gainer V, Gharavi A, Glazer AM, Glessner JT, Goehringer J, Gordon AS, Graham C, Green RC, Gundelach JH, Dayal J, Hain HS, Hakonarson H, Harden MV, Harley J, Harr M, Hartzler A, Hayes MG, Hebbring S, Henrikson N, Hershey A, Hoell C, Holm I, Howell KM, Hripcsak G, Hu J, Jarvik GP, Jayaseelan JC, Jiang Y, Joo YY, Jose S, Josyula NS, Justice AE, Kalla SE, Kalra D, Karlson E, Kelly MA, Keating BJ, Kenny EE, Key D, Kiryluk K, Kitchner T, Klanderman B, Klee E, Kochan DC, Korchina V, Kottyan L, Kovar C, Kudalkar E, Kullo IJ, Lammers P, Larson EB, Lebo MS, Leduc M, Lee MT(M), Leppig KA, Leslie ND, Li R, Liang WH, Lin CF, Linder J, Lindor NM, Lingren T, Linneman JG, Liu C, Liu W, Liu X, Lynch J, Lyon H, Macbeth A, Mahadeshwar H, Mahanta L, Malin B, Manolio T, Marasa M, Marsolo K, Dinsmore MJ, Dodge S, Hynes ED, Dunlea P, Edwards TL, Eng CM, Fasel D, Fedotov A, Feng Q, Fleharty M, Foster A, Freimuth R, McGowan ML, McNally E, Meldrim J, Mentch F, Mosley J, Mukherjee S, Mullen TE, Muniz J, Murdock DR, Murphy S, Murugan M, Myers MF, Namjou B, Ni Y, Obeng AO, Onofrio RC, Taylor CO, Person TN, Peterson JF, Petukhova L, Pisieczko CJ, Pratap S, Prows CA, Puckelwartz MJ, Rahm AK, Raj R, Ralston JD, Ramaprasan A, Ramirez A, Rasmussen L, Rasmussen-Torvik L, Rasouly HM, Raychaudhuri S, Ritchie MD, Rives C, Riza B, Roden D, Rosenthal EA, Santani A, Schaid D, Scherer S, Scott S, Scrol A, Sengupta S, Shang N, Sharma H, Sharp RR, Singh R, Sleiman PMA, Slowik K, Smith JC, Smith ME, Smoller JW, Sohn S, Stanaway IB, Starren J, Stroud M, Su J, Tolwinski K, van Driest SL, Vargas SM, Varugheese M, Veenstra D, Verbitsky M, Vicente G, Wagner M, Walker K, Walunas T, Wang L, Wang Q, Wei WQ, Weiss ST, Wiesner GL, Wells Q, Weng C, White PS, Wiley KL, Jr, Williams JL, Williams MS, Wilson MW, Witkowski L, Woods LA, Woolf B, Wu TJ, Wynn J, Yang Y, Yi V, Zhang G, Zhang L, Rehm HL, Gibbs RA. Harmonizing clinical sequencing and interpretation for the eMERGE III network. Am J Hum Genet. 2019;105:588–605. doi: 10.1016/J.AJHG.2019.07.018. [DOI] [PMC free article] [PubMed] [Google Scholar]

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