Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports

Abstract

Carrier screening estimates the risk for an individual to be a carrier of an autosomal recessive or X‐linked genetic condition. Incidentally, carrier screening may reveal personal health risks (PHR). Carrier results with PHR are “heterozygous variants which carry health risks similar to or unrelated to the disease caused by variants in a compound heterozygous, homozygous, or hemizygous configuration” (Sagaser et al., 2023, Journal of Genetic Counseling, 32, 540). Despite previous research identifying the carrier screening laboratory report as the most frequently utilized resource when providing post‐test counseling for PHR, genetic counselors' preferences and expectations regarding PHR reporting have not been investigated. We developed a 20‐item survey using five‐point Likert scales and free‐response questions related to the format and content of a laboratory report when PHR is identified. Participants were recruited through the NSGC Student Research Survey Listserv and included 48 clinical and eight laboratory genetic counselors. Most participants had neutral (39%) or low satisfaction (48%) with the current reporting of PHR. Participant‐free responses highlighted a lack of consistency in how PHR is reported. Most participants (79%) agreed that reports should include clear management recommendations regarding PHR follow‐up for providers, such as suggestions for specialty referrals or professional guidelines relevant to risks associated with the specific gene. There was a wide variation in responses regarding whether patients should be able to opt‐out of PHR information on carrier screening panels. Free responses collected suggest the need for further investigation and clarification regarding an opt‐out policy concerning logistics and consent. PHR for carriers is a nuanced topic, and reporting these risks requires careful consideration. The results of this study provide guidance as to how genetic counselors desire to see PHR reported on carrier reports.

What is known about this topic:

Carrier screening reports may include findings in genes associated with personal health risks (PHR). The carrier screening laboratory report has been identified as the most frequently utilized resource for genetic counselors when providing post‐test counseling about carrier screening results with PHR.

What this paper adds to the topic

Prenatal and laboratory genetic counselors suggest a need for consistency across labs when reporting PHR for carriers identified through carrier screening. Additional discussion is warranted regarding whether there should be an option to “opt‐out” of receiving information regarding PHR when undergoing carrier screening and whether the inclusion of management recommendations, when applicable, should be listed on the testing report.

1. INTRODUCTION

The primary aim of carrier screening is to estimate the risk for an individual to be a carrier for an autosomal recessive or X‐linked condition. Couples and individuals may use this information prior to or during a pregnancy to estimate their chances of having a child with an autosomal recessive or X‐linked condition. Information provided from carrier screening ideally allows for conversations about reproductive options that are in line with patient values (“Committee Opinion No. 691: Carrier Screening for Genetic Conditions,” ²⁰¹⁷). In addition to learning about reproductive information, carrier screening may reveal information about personal health risks (PHR) associated with carrier status. The National Society of Genetic Counselors (NSGC) has defined PHR as, “heterozygous variants which carry health risks similar to or unrelated to the disease caused by variants in a compound heterozygous, homozygous, or hemizygous configuration” (Sagaser et al., 2023). These results are unrelated to the primary goal of testing and therefore are considered “incidental findings” (Gbur et al., 2021; Sagaser et al., ²⁰²³). Carrier screening results with PHR range significantly in their health implications. For example, there is an increased risk of cardiomyopathy for female carriers of Duchenne muscular dystrophy, premature ovarian insufficiency risk for female carriers of Fragile X syndrome, breast cancer risk for male and female carriers of ataxia telangiectasia, and an increased risk for males and females to develop Parkinson's disease for Gaucher disease carriers (American Academy of Pediatrics Section on & Cardiac, 2005; Jerzak et al., ²⁰¹⁸; Rosenbloom et al., ²⁰¹¹; Schwartz et al., ¹⁹⁹⁴). These genes are found on most expanded carrier screening panels. Although most conditions on carrier screening panels are not associated with PHR for carriers, it has become increasingly common for these risks to be identified through carrier screening (Brown et al., 2021). Limited literature exists on the prevalence of PHR identified through carrier screening, although it is estimated to range between 1.56% and 6% (Brown et al., 2021; Gbur et al., ²⁰²¹). As the list of conditions included on carrier screening panels increases, it is possible that the number of conditions associated with PHR may also increase. It is anticipated that the discovery and reporting of PHR associated with carrier status will continue to become more frequent as these relationships and risks become better defined (Gbur et al., 2021).

The most recent carrier screening practice guideline from NSGC includes recommendations for providers to discuss the possibility of discovering PHR as an incidental finding during the pre‐test counseling process (Sagaser et al., 2023). Patients have demonstrated they value knowing whether there is a possibility to discover information about their own health from carrier screening and being able to decide whether they want to know this type of information (Kraft et al., 2019). Patients also report that learning about this possibility at the pre‐test counseling appointment would not deter them from pursuing carrier screening (Kraft et al., 2019; Mulhern et al., ²⁰¹⁸).

Historically, carriers of autosomal recessive and X‐linked conditions have not been thought to carry health implications of their own. As the phenotypes of carriers have evolved over time and PHR have been identified, some research has been done to examine the types of resources genetic counselors are using to learn about and prepare for the disclosure of PHR. Previous research has identified that the most common resource clinical genetic counselors used to research PHR for post‐test counseling appointments was the carrier screening laboratory report (Thompson et al., 2019). Additional resources like practice guidelines and continued education have been suggested for genetic counselors to guide their pre‐and post‐test counseling for carrier screening results associated with PHR, but an investigation into genetic counselors' expectations and satisfaction with the reporting of these findings on laboratory reports has not been performed.

When considering incidental findings such as PHR, one might draw comparisons and contrasts between the option to opt‐out of PHR results on carrier screening and the option to opt‐out of secondary findings on genomic testing. Secondary findings, a subset of incidental findings, are described as pathogenic or likely pathogenic variants identified in genes that are intentionally analyzed but are not related to the original indication for testing (Saelaert et al., 2018). These genes are carefully selected and reviewed by the American College of Medical Genetics and Genomics (ACMG) and are associated with adult‐onset, medically actionable, inherited conditions such as hereditary cancer and cardiac conditions (Vears & Amor, 2022). Incidental findings, on the contrary, exist in all contexts of genetic testing, and disclosure of this information often generates much discussion in other subspecialties due to its association with medical management unrelated to the primary reason for undergoing testing. PHR is technically an incidental finding when discovered on carrier screening, although some of the same genes are also on the secondary findings list (Miller et al., 2023).

Disclosure of both incidental findings and secondary findings for patients undergoing genomic testing has been widely debated by individuals and professional organizations. Upon the creation of the “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing” gene list in 2013, ACMG proposed that all samples undergoing WES or WGS should include analysis of the 56 medically actionable genes originally on the secondary findings list without an option to opt‐out of results (Vears & Amor, 2022). After retracting this position, ACMG now supports an opt‐out policy for secondary findings for children and adults undergoing WES/WGS to support patient autonomy and the right not to know genetic information (Saelaert et al., 2018; Vears & Amor, ²⁰²²).

Kraft et al. (2019) found that allowing patients to make choices and opt‐out of secondary findings like PHR on genome‐scale carrier screening increased patient autonomy and was important to support patients in making personal choices about reproductive decisions and their own health (Kraft et al., 2019). Markedly less research has been published regarding whether genetic counselors believe an opt‐out option should be considered for the purpose of reporting PHR.

With the publication of the NSGC carrier screening practice guideline including the recommendation to discuss the possibility of discovering PHR, a potential downstream effect may include increased attention to post‐test counseling and follow‐up for these incidental findings (Sagaser et al., 2023). The goal of this study is to investigate genetic counselor's expectations and satisfaction with the reporting of PHR on carrier screening reports. To our knowledge, laboratory genetic counselors have not been included in research investigating carrier screening results associated with PHR, despite their involvement in report writing, provider education, variant analysis, test development, etc. This study aims to include patient facing genetic counselors and laboratory genetic counselors. The expected increased awareness of carrier screening results associated with PHR and reliance on the testing report as a valued resource highlights the importance of an investigation into genetic counselor's perspectives on the reporting of PHR.

2. METHODS

2.1. Recruitment

Genetic counselors were invited to complete the survey via the NSGC Student Research Survey Listserv. Participants were eligible to complete the survey if they were board‐certified or board‐eligible genetic counselors and had either provided genetic counseling for carrier screening or were “involved in” writing a carrier screening report in the last 2 years. “Involved in” was not specifically defined in this study and was left intentionally broad to capture genetic counselors who work in a laboratory setting and may not order or disclose results but may be involved in the writing or interpretation of reports. Responses were collected between August 24, 2022, through October 1, 2022. A reminder email was sent 1 week after the survey's initial posting through the NSGC Student Research ListServ.

2.2. Instrumentation

The survey was designed and administered through REDCap, a HIPAA‐compliant web‐based survey tool (Harris et al., 2009). The survey contained 20 five‐point Likert scale and free‐response questions (Appendix S1). This manuscript includes data from 15 of these survey questions. Five questions were not analyzed given they were unrelated to the study's goals. The goal of this study was not to assess genetic counselor confidence or knowledge of specific PHR but rather to gather perspectives on expectations and satisfaction regarding the reporting of PHR.

Survey questions were divided into three sections: Demographics, Personal Health Risk, and Reporting of Personal Health Risks for Carriers. Demographics were modeled after the NSGC Professional Status Survey (PSS) including time worked as a genetic counselor, primary area of practice, time spent in current position, and level of interaction with patients. At the survey's beginning, two informative paragraphs defined PHR and provided information about how these risks are reported. The paragraph defining PHR was modeled after language used in published NSGC carrier screening guidelines (Sagaser et al., 2023).

The survey was piloted by one prenatal and two laboratory genetic counselors to ensure clarity and applicability for genetic counselors in different specialties. Changes were made to the informational paragraphs based on this feedback to better define PHR and highlight the differences between PHR and reproductive risks. This study was reviewed and deemed exempt by the Institutional Review Board (IRB) at the University of Nebraska (IRB #0488‐22‐EX).

2.3. Data analysis

Demographic data were analyzed using descriptive statistics. Participant responses for years worked as a genetic counselor were grouped like how they are reported in the NSGC Professional Status Survey. Participants who selected their primary area of practice as “Laboratory (molecular/cytogenetic/biochemical testing/variant science)” were labeled as “laboratory genetic counselors” whereas participants selecting any other area of practice were labeled as “clinical genetic counselors.” All other survey questions were analyzed with descriptive statistics including mean, median, and range. An open‐ended question asked for participants to estimate the number of times per year that participants encountered a carrier screening report positive for PHR and responses were reported with mean, median, and range. For Likert scale responses, participants who selected the response options “strongly agree” or “agree” were combined into one “agree” group whereas those who selected “strongly disagree” or “disagree” were combined into one “disagree” group. Importantly, comparisons were not made between the laboratory and clinical genetic counselor groups due to the small sample size and given the goal to represent both groups rather than compare the two. Qualitative analysis of free response data was not performed, however select responses were included to provide illustrative support to the nuance of quantitative data collected. A copy of the survey can be found in the Appendix S1.

3. RESULTS

3.1. Demographics

A total of 56 participants completed the survey and all met the inclusion criteria. The response rate of this survey was approximately 1.2% of all eligible genetic counselors based on the reported number of prenatal/preconception and laboratory counselors per NSGC (National Society of Genetic Counselors (NSGC), Professional Status Survey 2022: Work Environment Report, 2022). Participant characteristics are summarized in Table 1. Most participants (n = 48) primarily worked in a clinical genetic counseling setting, whereas 14.3% (n = 8) worked in a laboratory setting. Of the total 56 participants, most (80%) described their primary role as direct patient care. About half (44.6%) had 1–4 years of experience as a genetic counselor and the remaining participants (55.4%) had between 5 and 35+ years of experience.

TABLE 1.

Demographic information.

Demographic data	n	%
Years of experience (N = 56)
Less than 1 year	7	12.50%
1–4 years	25	44.60%
5–9 years	11	19.60%
10–14 years	8	14.30%
15–19 years	1	1.80%
20–24 years	1	1.80%
25–29 years	0	0.00%
30–34 years	0	0.00%
35+ years	3	5.30%
Primary area of practice (N = 56)
Clinical	48	85.70%
Laboratory	8	14.30%
Years spent in current position (N = 54)
Less than 1 year	16	29.60%
1–4 years	29	53.70%
5–9 years	6	11.10%
10–14 years	1	1.85%
15–19 years	1	1.85%
20–24 years	1	1.85%
Interaction with patients (N = 56)
Direct patient care	45	80%
Non‐direct patient care	8	14.50%
Mixed	3	8.80%
Employer setting (N = 56)
Diagnostic Laboratory‐commercial, nonacademic	12	21.40%
Hospital/Medical Facility‐academic medical center	19	33.90%
Hospital/Medical Facility‐private (nonprofit for profit)	10	17.90%
Hospital/Medical Facility‐public	9	16.10%
Non‐for‐profit Organization	1	1.80%
Physician Private Practice	2	3.60%
Telegenetics	1	1.80%
University	2	3.60%

3.2. Experience with PHR on carrier screening reports

Most participants (87.5%, n = 56) had encountered a carrier screening report containing PHR, 10.7% had not encountered a report, and 1.8% did not know. Participants who had seen a carrier screening result with PHR estimated an average frequency of between 1 and 14 carrier screening reports with PHR per year. Responses ranged from 1 to 1000 times with a median of 10 times per year. There were four participants who encountered more than 55 reports per year. Three worked in a commercial nonacademic diagnostic laboratory and one worked for a private company providing telehealth services.

3.3. Expectations of the reporting of personal health risks on carrier reports

Participants expressed variable opinions when it came to expectations of carrier screening reports with PHR. The vast majority (92.9%, n = 56) agreed that information about the specific PHR should be included in carrier screening laboratory reports (Figure 1). There was more deviation in whether participants felt patients should have the opportunity to opt‐out of receiving PHR information on carrier screening. Some participants (42.9%, n = 56) agreed whereas 30.4% disagreed and 26.8% were neutral (26.8%) (Figure 1).

FIGURE 1.

Fifty‐six participants responded to three Likert scale questions asking whether participants believed PHR should be included on carrier screening reports, whether patients should be given the opportunity to opt‐out of PHR information, and asking about participant's satisfaction with the reporting of PHR.

Some participants felt offering an option to opt‐out would not be feasible given the unpredictable nature of when unexpected information is discovered in genetic testing.

P8 (Laboratory Genetic Counselor): Unexpected findings and information comes from genetic testing often. There's no way to completely protect patients from this or provide fully informed consent to opt out of these potential scenarios.

Some felt offering an option would limit the utility of carrier screening if genes with PHR were excluded and carrier screening risk was not able to be calculated for those genes.

P7 (Clinical Genetic Counselor): I have had this discussion with patients when they imply they want reproductive information but want to avoid conditions that may tell them about their own health. This is a difficult discussion because I want them to understand how serious something like Gaucher disease is. I bring up the hypothetical question asking them about the trade off, are they so against knowing about their own risk of Parkinson's that they would rather not know about a life limiting severe condition for their child?

P52 (Laboratory Genetic Counselor): The risks associated with carrier genes are…extremely heterogeneous and typically very mild, except for X‐linked disorders. It would be next to impossible to provide a comprehensive carrier screening panel if you opted out of personal health risk information. What would be the point of a carrier panel that didn't include screening for Fabry? For Fragile X? It would be a useless test if you eliminated some of these incredibly important conditions.

One participant commented that an opt‐out option may place genetic counselors in an ethical dilemma.

P29 (Clinical Genetic Counselor): We have an obligation to tell patients about risks to their health from carrier screening results. Even if labs don't report them, the counselors will know the risks.

Others felt that offering an opt‐out option was important to maintain patient autonomy and choice not to know genetic information.

P40 (Clinical Genetic Counselor): Everyone should have the choice about what they learn and what they don't, in terms of risk…

One participant mentioned the need for proper consent to carrier screening, potentially suggesting that patients may be unaware of the personal implications of carrier screening.

P56 (Clinical Genetic Counselor): Similar to exome consent, we should describe the possible risks/benefits of learning personal health risk information when we offer carrier screening to our patient. I think many patients end up learning about personal health risks ‘accidentally’ after electing carrier screening… anxious patients aren't prepared for personal health risk [information] from this test: they understand it as has something that is about their pregnancy (or pregnancies), not about themselves.

Some participants wanted more clarification on the logistics, panel design, and consenting process should an opt‐out option be offered.

P45 (Clinical Genetic Counselor): If they opt‐out, would that carrier status still be reported but without the information about personal health? We don't want to miss that someone is a carrier (for reproductive reasons), but also is easy to find information online or from other sources about symptoms for carriers. We would need clarification on what an opt‐out option looks like

P44 (Clinical Genetic Counselor): While I agree they should have the option, I am not sure how the lab would handle that from a compliance perspective

P2 (Clinical Genetic Counselor): If they were to opt out of personal health risk information, would they also be opting out of knowing their carrier status for genes that would otherwise be tested? That seems like a dicey conversation. What if both parents are carriers and they didn't know because they opted out of personal health risks but then had a child with a “worse” condition than the carrier status? …

3.4. Desired information when PHR is reported

Most (75%, n = 56) participants agreed that PHR should be visually highlighted on carrier screening laboratory reports. One response from participant 53 summarizes many comments from text box responses on this topic, emphasizing the importance of report clarity for non‐genetics providers and patients.

P53 (Clinical Genetic Counselor): [PHR information] contained within a separate box would be more beneficial for clinicians, especially non‐GC/geneticist providers, and for patients. Often the information about personal health risks is included within a paragraph that also has information on the variant c./p. information and discussion of the type of variant. As a patient I can imagine they gloss over the information contained in the later part of the paragraph after being overwhelmed by the first 1–2 sentences. As we shift to promoting carrier screening to be implemented in gynecology and primary care spaces so patients have an opportunity to receive their reproductive risks prior to conception, it would be important to ensure Gyn/PCP have a bolded area of any personal health risks they should be monitoring their patient for on a long term basis… so there should be adequate information and/or reference to useful resources easily located on a report for non‐genetics providers ordering this screening.

Similarly, most participants (76.8%, n = 56) agreed that clear management recommendations for providers should be included on carrier screening reports when they contain PHR information. A minority (8.9%) disagreed (Figure 2). Some participants felt management recommendations would be especially helpful for non‐genetics providers.

P6 (Clinical Genetic Counselor): Oftentimes physicians working in the OBGYN/REI settings are not familiar with how to handle these carrier risks and what management steps are appropriate … It's unreasonable to expect these physicians to have the genetics background knowledge sufficient to be able to determine what referrals are appropriate.

P31 (Clinical Genetic Counselor): Management guidelines could be included with the report for the patient so they can share this with their PCP. Otherwise, the PCP will have no idea what to do with this information.

FIGURE 2.

Fifty‐six participants responded to two statements. First, “clear management recommendations for providers, like specialty referrals, should be included on laboratory reports that include personal health risks for carriers.” Second, “clear management recommendations directed at patients should be included on laboratory reports that include personal health risks for carriers.”

Those who disagreed were more hesitant to suggest that laboratory reports include this information for various reasons including scope, liability, and responsibility of the genetic counselor/ordering provider.

P4 (Laboratory Genetic Counselor): HCPs [healthcare providers] have a responsibility to care for and triage their patients based on the results of the tests they order. Providers should be comfortable making a referral if they feel something is out of their scope of practice.

P36 (Clinical Genetic Counselor): … it is the responsibility of the ordering provider to research management recommendations. Reports even for diagnostic testing often do not include management recommendations. The purpose of carrier screening is to…identify reproductive risks. It is important to highlight personal risks, but this should not take up the entire test report.

Additionally, participants had mixed opinions on whether PHR management recommendations directed toward patients should be included on reports or not (Figure 2). Some participants felt this would decrease patient follow‐up or extend the scope of the laboratory.

P27 (Clinical Genetic Counselor): I would expect the patient to be given management recommendations from their GC and other involved providers. If the report lists these recommendations, I worry the patient may not follow up appropriately and try to self ‐manage, which may not always turn out well!

P52 (Laboratory Genetic Counselor): …if a laboratory report strongly recommends a patient to have [medical management], that is alarming. However, I think labs should call out the need for genetic counseling and recommend patients talk to a genetic counselor who can give personalized recommendations for management.

Others felt there may be utility of clear management recommendations for patients, if listed on the report explicitly.

P41 (Clinical Genetic Counselor): Carrier screening options have become available to patients without needing a provider to order the testing. Because of this, there should be patient directed language describing these health risks and next steps.

P56 (Clinical Genetic Counselor): I hesitate to endorse medical management…recommendations being distributed on a lab report, especially since patients often see these without or before provider input – but I do like the idea of giving the patients (and providers!) all of the info in one place.

Most participants (45.5%, n = 55) were neutral when asked whether resources, such as support groups, related to PHR should be included on laboratory reports. However, some (29.1%, n = 55) of participants disagreed with this statement. Most participants (92.8%, n = 55) agreed that sections of carrier screening laboratory reports that discuss PHR should be written at a reading level no higher than an eighth‐grade level. Finally, when asked to respond to the statement, “I am satisfied with how personal health risks for carriers are reported on carrier screening reports,” there was variability in responses (Figure 1). Based on comments from the free‐response question, several participants voiced dissatisfaction with the lack of consistency regarding reporting of PHR.

P38 (Laboratory Genetic Counselor): Different labs do it differently – consistency would be helpful.

P44 (Clinical Genetic Counselor): It's very frustrating how each lab has their own system on how to report these risks, or how much information they include. For example, I have seen labs specifically call out the potential impact of being heterozygous for HPP and others who don't even mention it. I think there is value in curating a list similar to what ACMG has for medically actionable conditions, and updating it periodically…

4. DISCUSSION

To our knowledge, this is the first investigation into genetic counselor's experiences with PHR on carrier screening reports and their thoughts about how they would like them to be reported. Additionally, this is the first study we are aware of which includes laboratory genetic counselors' perspectives on carrier screening reports that may include PHR. Previous research investigating carrier screening results associated with PHR has primarily included prenatal and preconception/reproductive/infertility genetic counselors (Thompson et al., 2019). Results of this study demonstrate that clinical and laboratory genetic counselors have varied levels of satisfaction with the current reporting of PHR and had mixed opinions on whether an opt‐out option should be provided for patients, and whether information about PHR management should be listed on the report. Our results provide guidance about how PHR could be reported.

4.1. Preferences for reporting of PHR

4.1.1. Should PHR be reported?

Most genetic counselors agreed that PHR should be included and visually highlighted on carrier screening laboratory reports. This could be achieved by including bolded text, headers, “carrier at risk for symptoms” labels, or using a separate box to draw attention to PHR information. Similarly, most participants (76.8%, n = 56) felt that providing management recommendations for providers was important. Participant‐free responses further explained this would be especially important for non‐genetics providers such as obstetrics/gynecology, reproductive endocrinology, and primary care providers to ensure that patients are not lost to follow‐up. This is important to note given that non‐genetics providers are integral in facilitating carrier screening and are often where patients are first introduced to carrier screening (Kathrens‐Gallardo et al., 2021). Participants mentioned that responsible follow‐up could be better facilitated by including references to professional guidelines and specialty providers on the carrier report. The suggestion to provide management recommendations for providers is already in practice on the genetic testing reports for other specialties including cancer genetics where test reports may include up‐to‐date management guidelines when reporting positive results for hereditary cancer syndromes. Thus, discussion on the role of carrier reports in providing management information for healthcare providers and whether there are fundamental differences between the genetic specialties that merit a difference in the reporting of health risks should be explored. It is also important to note that without highlighting PHR information on carrier screening reports, there is a chance of creating further disparities in care. Genetic counselors may be more likely to have awareness of PHR compared to other health care providers who have not received education on PHR, potentially creating further disparities in patient education of PHR or appropriate follow‐up.

4.1.2. Should management guidelines be included on the report for PHR results?

Participant responses varied regarding whether management recommendations should be provided on the laboratory report. Some who advocated for including patient‐directed recommendations argued that carrier screening might be ordered without a genetic counselor or healthcare provider's direct involvement. There are many ways patients may obtain carrier information without the direct involvement of a healthcare provider. For example, the public can utilize direct‐to‐consumer genetic testing to learn about carrier information, ancestry, and other characteristics (Majumder et al., 2021). In addition, there are also large, clinical‐grade carrier screening panels that cover hundreds of genes, including those with PHR, which can be ordered online without direct contact with a provider. In these situations, it may be important for general management recommendations to be highlighted on the carrier screening report if PHR is identified. Emphasis could also be placed on pursuing a discussion with a provider to minimize the possibility of overlooking PHR on a carrier screening report. However, there were genetic counselors in this study who disagreed with the inclusion of patient‐directed management information. Overall, they felt that management recommendations directed toward patients could decrease patient follow‐up, encourage patients to self‐manage, or would be appropriate only in conjunction with provider recommendations. These responses suggest that there may be several contexts for carrier screening that need to be considered when discussing the inclusion of patient or consumer‐directed management recommendations.

4.1.3. What reading level should PHR information be written?

The importance of writing reports at an appropriate reading level for the general population was confirmed in this study. Patients may be provided with a copy of their carrier screening report and be encouraged to discuss results with a particular healthcare provider. For patients to utilize the laboratory report to facilitate conversation, they must be able to understand complex medical information. Between one‐third and one‐half of United States inhabitants have low health literacy, therefore approachable language and appropriate reading level (eighth grade or lower) promote autonomy for individuals with PHR identified on carrier screening (Schillinger, 2020). Due to the uncertainty in this study population about the inclusion of management recommendations for patients, if management guidelines for PHR are provided, it might be best for this information to be written using approachable language that could be understood by both patients and providers.

4.1.4. Should an opt‐out option be provided?

Participant responses about whether an opt‐out option should be considered were varied. Some were supportive of an option to opt‐out of PHR information whereas others felt this option may deter patients from important reproductive risk information. Participant‐free response comments drew attention to the need for opt‐out options to be better defined to explain whether patients would opt‐out of receiving carrier results for all genes with known PHR or only opt‐out of receiving the PHR risks associated with those genes but still receive carrier status information. If the latter were true, an ethical dilemma may arise for providers if they were to knowingly withhold information about PHR that could change screening and health management for the carrier. Thompson et al., (2019) suggested creating a carrier screening panel that only includes genes which have no known PHR associated for patients who chose to avoid this information (Thompson et al., 2019). Some participants in this study commented that a panel of this nature would be problematic, however, as it would not provide the full range of reproductive risks for an individual or a couple. Additionally, the number of conditions that have PHR for carriers is expected to increase, as more patients access this testing, and as the phenotypes of genetic conditions continue to expand further complicating the creation of such panel (Gbur et al., 2021). An expert‐curated list of PHR‐associated genes would have to confront the question of which health risks are perceived as severe enough or significant enough to merit inclusion in such a list. Carrier screening already faces this difficulty when deciding which genes to include in a carrier screening panel. Overall, participant comments highlight the need for continued collaboration and education between patients, providers, and labs to define informed consent for carrier screening and the possible discovery of PHR. The lack of clarity about whether patients would have the option to opt‐out of carrier results for all genes with known PHR or only opt‐out of the PHR result information may have contributed to the varied responses in this study.

4.1.5. Is an opt‐out option for PHR similar to opt‐out options for secondary findings?

Participant responses regarding an opt‐out option in the present study also highlighted similarities and generated questions regarding PHR on carrier screening and secondary findings on genomic testing given these types of incidental findings are not unique to carrier screening. Currently, there are genes on some laboratory's expanded carrier screening panels that are also on the ACMG secondary findings reporting list. ACMG's support of an opt‐out option for secondary findings after a formal consent process gives rise to differences between what types of genetic tests allow individuals to opt‐in or opt‐out of information regarding their own health when that information is unrelated to the primary indication for testing. In other genetics specialties like pediatric genetics, parents of pediatric patients can opt‐in or opt‐out of receiving secondary findings that could impact not only the health and reproductive risk for their child but their own health and reproductive risk as well. However, it is not standard of care to offer individuals the option to opt‐out of health information about themselves when undergoing carrier screening at this time.

Several studies have suggested that most parents whose child or fetus undergoes genomic sequencing are interested in information provided by secondary findings (Rego et al., 2022). Rego et al. (2022), however, report that 37% of families did not want to receive information about presented hypothetical secondary findings (defined as ACMG secondary findings, pharmacogenomic findings, carrier status, and variants causing untreatable diseases) for their children (Rego et al., 2022). ACMG revised their original statement and now supports an opt‐out option for secondary findings to promote patient autonomy and the right not to know genetic information. This raises an important question; Are there fundamental differences between how PHR is consented for and reported on carrier screening and genomic testing that warrant differences in opt‐out policies for PHR and secondary findings?

It is estimated that between 1% and 4% of individuals undergoing genomic testing receive a secondary finding result (Sapp et al., 2021). Similarly, studies report that between 1.56% and 6% of patients undergoing carrier screening receive PHR information (Brown et al., 2021; Gbur et al., ²⁰²¹). This suggests the incidence of PHR may be equal to or greater than that of secondary findings, furthering the need for additional discussion of opt‐out options and logistics in how PHR is reported on carrier screening reports. The present study suggests varied support from genetic counselors regarding the option to opt‐out of PHR particularly when thinking about the feasibility of offering patients an opt‐out option for PHR while still offering carrier status information, the impact this option may have on consent practices, and the potential to create further healthcare disparities while encouraging the ability to opt‐out or withhold PHR information. As associations between carrier status, PHR, and recommendations for screening/management become more well‐defined, discussions about opt‐out options should be explored by patient organizations, professional organizations, and laboratories.

4.2. Limitations

Low participation is a limitation of this study as the total response rate was roughly 1.2% of all eligible participants (National Society of Genetic Counselors (NSGC), Professional Status Survey 2022: Work Environment Report, 2022). A significant proportion of participants in this study were clinical genetic counselors with less than 5 years of experience and not all participants had encountered a carrier screening lab report containing PHR. Together, this suggests that at least some participants had minimal experience interpreting PHR. Additionally, participants may have chosen to participate in this survey because they were familiar with PHR or had strong positive or negative experiences with the reporting of this information. Participants were grouped into “clinical genetic counselors” or “laboratory genetic counselors” based on their responses to the demographic question regarding their primary area of practice. Most participants who were grouped into the “clinical genetic counselors” group selected their primary role as “direct patient care.” Therefore, we were confident that this group truly represented counselors practicing in clinical roles. Although, retrospectively, this may have limited the nuance of some counselors' practice. We also acknowledge that the survey may not have thoroughly explained and distinguished between the questions regarding clear management recommendations for providers and patients. This may have created confusion and impacted participant responses.

Although the opt‐out question generated interesting discussion, the question itself was non‐specific about whether it pertained to opting out of all genes with known PHR or just the PHR information itself. This likely influenced how participants answered questions related to opting out. Given the survey did not provide a clear definition or context for participants to interpret the opt‐out scenario it may be challenging to generalize participant responses regarding the opt‐out option.

4.3. Research recommendations

Given our low participation rates, a larger study investigating more laboratory and clinical genetic counselors may be beneficial to compare the generalizability of our findings. The results of this study suggest a need for further investigation into whether an opt‐out option for carrier screening results with PHR would be ethical or possible. As carrier screening is becoming more frequently ordered by primary care providers and obstetrics/gynecology providers, further research is needed to determine whether non‐genetics providers feel PHR is appropriately reported. Additionally, direct‐to‐consumer (DTC) genetic testing with carrier screening information is becoming more widely accessible to the general population. An investigation into the reporting practices for PHR and recommended follow‐up when this information is revealed on DTC panels may be warranted. Lastly, in addition to genetic counselors and other healthcare providers interacting with carrier screening laboratory reports, patients have their own unique and valuable experiences with laboratory reports. There has been some research into whether patients want to learn about PHR, how they prefer to learn about these risks, and their actions after learning about these risks (Brown et al., 2021; Mulhern et al., ²⁰¹⁸). Despite this, there has not been an investigation into how patients experience a carrier screening laboratory report with PHR or their preferences for how it is reported.

5. CONCLUSION

The findings from this study describe laboratory and clinical genetic counselors' preferences for the reporting of PHR on carrier screening laboratory reports. Most participants desire PHR to be visually highlighted within reports. Most participants also agreed that management recommendations for providers should be included. Participants prefer that language used to describe and explain PHR results be appropriate for the general population at an eighth‐grade reading level or less. Several participants suggest a need for consistency across laboratories when reporting PHR for carriers. As associations between carrier status for autosomal recessive and X‐linked conditions and PHR continue to be discovered and documented, collaboration between patients, clinicians, and laboratories must continue to explore the many nuances of reporting PHR in genes as it pertains to carrier screening. Further investigation into this topic would help promote responsible implementation of PHR identified through carrier screening.

AUTHOR CONTRIBUTIONS

Sydney Hubbard was responsible for the conception of the study with substantial contributions from Kristen Fishler and Alexandra Hankewycz. Sydney Hubbard has full access to all the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis. All authors gave final approval of this version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

CONFLICT OF INTEREST STATEMENT

Authors Sydney Hubbard, Alexandra Hankewycz, and Kristen Fishler declared they have no conflicts of interest.

ETHICS STATEMENT

Human Studies and Informed Consent: This study was reviewed and granted an exemption by the University of Nebraska Medical Center's Institutional Review Board. All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Implied informed consent was obtained for individuals who voluntarily completed the online survey and submitted their responses.

Animal Studies: No non‐human animal studies were carried out by the authors of this article.

Supporting information

Appendix S1.

Appendix S2.

Hubbard, S. , Fishler, K. , & Hankewycz, A. (2025). Laboratory and clinical genetic Counselor's perspectives on the reporting of personal health risks on carrier screening reports. Journal of Genetic Counseling, 34, e70009. 10.1002/jgc4.70009

DATA AVAILABILITY STATEMENT

The data that supports the findings of this study are available upon responsible request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.