Evolution of Hereditary Breast Cancer Genetic Services: Are Changes Reflected in the Knowledge and Clinical Practices of Florida Providers?

Abstract

Aims: We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing. Methods: A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses. Results: Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory. With regard to pretest counseling, 78% of respondents indicated they usually discuss 11 of 14 nationally recommended elements for informed consent. Pretest discussion times varied from 3 to 120 min, with approximately half spending <20 min. Elements not routinely covered by >40% of respondents included (1) possibility of a variant of uncertain significance (VUS) and (2) issues related to life/disability insurance. With regard to genetic testing for HBOC, 88% would test an unaffected sister of a breast cancer patient identified with a BRCA VUS. Conclusions: Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.

Recent events have significantly altered the genetic testing landscape for hereditary breast and ovarian cancer (HBOC). First, a Supreme Court Ruling ended the patent on the BRCA1 and BRCA2 (BRCA) genes in spring of 2013 and allowed other genetic laboratories to offer clinical testing for the BRCA genes either individually or as part of multigene tests (Association for Molecular Pathology v. Myriad Genetics. Supreme Court of the United States, 2013). Second, advances in genetic technology through next generation sequencing (NGS) (Chan et al., 2012) have led to plummeting sequencing costs, making it possible to clinically test for multiple hereditary cancer genes through one test. Finally, celebrity endorsement and discussion of HBOC (Jolie, 2013) increased public awareness and demand for genetic services for HBOC (Evans et al., 2014). There is a need to understand how changes and increased complexity in genetic testing, coupled with the rising demand, have impacted delivery of genetic services.

Although there is no single standard to evaluate the quality of genetic service delivered, professional organizations such as the American Society of Clinical Oncology (ASCO) (Robson et al., 2010, 2015), the National Society of Genetic Counselors (NSGC) (Berliner et al., 2013), and the Commission on Cancer [Commission on Cancer/National Accreditation Program for Breast Centers (NAPBC), 2014] have identified practice guidelines for the delivery of genetic services for hereditary cancer and these guidelines share many commonalities (as outlined in Table 1). Specifically, these guidelines cover genetic risk assessment practices, elements that should be included in pretest counseling before obtaining informed consent, and genetic testing practices. Given the importance of HBOC knowledge and adherence to professional practice guidelines in the context of significant recent changes in the genetic testing landscape, we assessed current health provider knowledge and practices and explored provider adherence to pretest counseling elements.

Table 1.

Common Standards for Cancer Genetic Risk Assessment, Pretest Counseling (Informed Consent), and Genetic Testing by Various National Professional Organizations

Guidelines	American Society of Clinical Oncology (ASCO) (“American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility,” 2003; Robson et al., 2010)	National Society of Genetic Counselors (NSGC) (Riley et al., 2012)	American Society of Breast Cancer Surgeons (ASBS) Consensus Statement www.breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf	National Accreditation Program for Breast Centers (NAPBC) Standards http://napbc-breast.org/standards/standards.html
General description of each guideline	ASCO has issued recommendations concerning the provision of pre- and posttest counseling by healthcare professionals, as well as indications for genetic testing and elements of informed consent	NSGC updated comprehensive recommendations regarding essential elements of genetic cancer risk assessment, counseling, and testing in 2012	ASBS's consensus statement highlights relevant issues necessary for informed consent for genetic testing	NAPBC is a consortium of national professional organizations dedicated to the improvement of quality care and outcomes of patients through evidence-based standards that include specific recommendations for elements of cancer genetic risk assessment and counseling
Risk assessment	Pedigree information should be used to determine the appropriateness of genetic testing Recognize indications for genetic cancer predisposition testing	Collect personal medical history and 3–4 generation family medical history Determine whether patient has average, modest, or increased cancer risk and identify potential hereditary cancer syndromes that should be considered	A comprehensive family history, including evaluation of maternal and paternal lineage Identify patients at high risk for hereditary breast and ovarian cancer, as well as other hereditary breast cancer syndromes	Collect information to assess risk: 3–4 generation pedigree. Evaluation of patient's cancer risk including (1) absolute risk that the patient will develop a specific type of cancer or cancers based on the family history and (2) risk that the patient carries a heritable or germline mutation in a cancer susceptibility gene
Pretest counseling elements of informed consent should include	Information on specific test being performed	Information on precise gene(s) being tested	Information about testing	Educate patient about the hereditary cancer syndrome (if appropriate)
		Purpose of the test and who to test		Purpose of test and who the ideal person is to test first
	Implications of a positive result	Implications of a positive result	Implications of a positive result	Likelihood of positive result
	Implications of a negative result	Implications of a negative (uninformative negative/true negative)	Implications of a negative result	Not specified
	Possibility that the test will not be informative	Possibility for an uninformative negative result (if appropriate) and possibility of a variant of uncertain significance	Implications of an inconclusive result	Possibility of an inconclusive test result
	Options for risk estimation without genetic testing	Alternatives to genetic testing and risk assessment and recommendations based on the family and medical history	Medical and ethical implications of the decision not to be tested	Alternatives to genetic testing
	Fees involved in testing and counseling	Inform about the cost of genetic testing and inform that their particular insurance may not provide coverage or reimbursement for such tests	Not specified	How results affect economics and insurance considerations
	Risk of passing mutation on to children	Mode of inheritance associated with the gene	Not specified	Not specified beyond “significance and impact of the test results” and “informing relatives”
	Psychological implications of test results (benefits and risks)	Psychosocial aspects (i.e., anticipated reaction to results, coping, timing and readiness for testing, family issues, preparing for result disclosure)	Psychosocial considerations Breast cancer-specific genetic counseling skills are necessary	Psychosocial assessment; utilization of test results
	Risks of insurance or employer discrimination	Possibilities of genetic information discrimination (extent to which laws are protective or not for health insurance, life insurance, and disability insurance)	Insurance eligibility Laws prohibiting health insurers from discriminating based on a genetic test result Lack of these restrictions for life insurance carriers	Laws protecting against genetic discrimination
	Options and limitations of medical surveillance and strategies for prevention following test Whether testing could impact medical care	Options for cancer risk reduction and surveillance based on the patient's level of risk for specific cancers, genotype, family history, medical history, and so on	Medical and surgical management options for mutation carriers, including surveillance and chemoprevention, prophylactic surgery	How results may affect medical management
	Importance of sharing genetic test results with at-risk relatives so they may benefit from the information	Importance of sharing result is stressed as part of post-test counseling recommendations	Implications and potential for testing other family members if the result is positive	Informing relatives is stressed as part of post-test counseling
Genetic testing should be offered when	(1) Individual or family history suggests an inherited cancer syndrome (2) The genetic test can be adequately interpreted (3) Testing will influence medical management of the patient or other relatives	(1) Individual or family history suggests an inherited cancer syndrome (2) The genetic test can be adequately interpreted (3) Testing will influence medical management of the patient or other relatives	Patients with specific high-risk personal and family history characteristics should be offered genetic testing (one of these specific characteristics listed in the consensus includes early-onset breast cancer diagnosed before age 50)	Not specified, but links to external guidelines are listed, including ASCO, NCCN, and American Society of Breast Surgeons' Consensus

Materials and Methods

Sample

Based on a list generated through a publicly available directory and outreach efforts, a total of 553 healthcare providers across Florida were identified as offering HBOC genetic services to patients (Cragun et al., 2013; Pal et al., 2013). Providers who responded to the survey, but do not offer genetic testing for hereditary cancer, were excluded.

Survey development

The survey primarily used questions from an earlier 2010 healthcare provider survey and addressed three major areas: (1) current cancer susceptibility screening and genetic testing practices, (2) knowledge and clinical recommendations, and (3) demographic and practice characteristics (Cragun et al., 2013; Pal et al., 2013; Vadaparampil et al., 2015). Additional questions were added to evaluate practices related to several common elements of informed consent (e.g., risks, benefits, and possible outcomes of genetic testing) endorsed by professional organizations (Table 1), to evaluate awareness of the changing landscape of genetic testing for hereditary cancer risk, and to assess practices related to multigene testing unavailable at the time of the earlier 2010 survey.

Data collection

Florida-based practitioners were mailed a notification postcard to advise them of the forthcoming survey in late 2013. Approximately 2 weeks later, survey packets were mailed; these packets included a (1) cover letter, (2) paper survey, and (3) prepaid return envelope. For those who did not return the initial survey, an identical survey packet was mailed approximately 2 months after the first mailing. In addition, a notification postcard was mailed approximately 2 weeks before the distribution of the second survey packet. Upon receipt of the completed survey, respondents were sent a $25 gift card. Utilizing publicly available information, the study team collected basic demographic information for all providers to whom the survey was mailed.

Data analyses

Frequencies and percentages were calculated to characterize demographics of respondents, decliners, and nonrespondents. To assess for response bias, chi-square tests were performed to determine whether statistically significant differences existed between participants and nonparticipants in terms of gender and profession. Frequencies and percentages were calculated for responses to knowledge and clinical practice questions for all respondents as well as subdivided by genetic providers (GPs) (defined as board-certified/board-eligible genetic counselors and board-certified/board-eligible clinical geneticists) versus non-GPs (defined as other medical doctors (MD/DO) or healthcare professionals). Exploratory analyses using Fisher's exact tests were conducted to evaluate differences between GP and non-GP for responses to certain questions. All tests were two sided and considered statistically significant at p ≤ 0.05 with no adjustment made for multiple comparisons due to the small sample of GPs that limited statistical power.

Results

Response rate and sample characteristics

An overview of sampling, response rates, and profession of participants, decliners, and nonrespondents is provided in Figure 1. Of the 553 potential respondents, 42 packets were returned as “undeliverable.” Of the remaining 511, 105 practitioners (20.5%) returned a survey, but four of these were excluded because they do not offer testing for hereditary cancer. Even though the majority (56%) of participants were physicians, comparisons with nonparticipants identified over-representation of nonphysicians among the respondents (p < 0.001). Females also were over-represented among respondents (p < 0.001).

FIG. 1.

Participant recruitment and respondents.

The majority of participants were female (71%) and non-Hispanic White (84%). Only 10% had a professional degree in genetics, 29% reported no genetics training, 37% reported training through a commercial genetics laboratory only, and the remaining 24% reported taking one or more formal courses or training sessions in genetics. Participants without a professional degree in genetics included 27 nurse practitioners, 4 nurses (BSN, CNM, RN), 1 physician assistant, and 59 physicians. Physician specialties included obstetrics/gynecology (n = 26), oncology (n = 22), general surgery (n = 6), and other (n = 5). Demographic characteristics, subdivided by whether they hold a professional degree in genetics (GPs), are shown in Table 2 along with practice characteristics. GPs typically ordered more tests for inherited cancer (including more multigene panel tests) and spent longer in pretest discussions with patients than non-GPs.

Table 2.

Demographics of Participants and Clinical Practice Characteristics

	Genetic professionals (n = 10)		Nongenetic providers (n = 91)
Variable	n	%	n	%
Work setting
Academic medical center	4	40	2	2
Public/community hospital	3	30	6	7
Private hospital or practice	3	30	82	90
no response			1	1
Genetics Training
Professional degree in Genetics (MD/MS)	10	100	—	—
Comercial laboratory training	—	—	36	40
At least 1 course in genetics	—	—	22	24
No genetics training	—	—	30	33
No response	—	—	3	3
Gender (% female)a	8	80	64	70
Race (% White/Caucasian)a	9	90	76	83
Hispanic (% yes)a	0	0	11	12
Time spent in pretest counselinga
≤ 10 min	—	—	20	22
11–20 min	—	—	29	33
21–30 min	—	—	18	20
31–40 min	1	10	4	4
41–50 min	3	30	9	10
51–60 min	1	10	6	7
>60 min	5	50	3	3

	Median (lower quartile, upper quartile)
Age	40 (34, 51)	51 (44, 58)
# years provided testing services	6 (4, 11)	7 (5, 10)
# patients in last 12 months tested for inherited cancer susceptibility to:
Breast/Ovarian Cancer	80 (50, 171)	12 (6, 40)
Other cancer	50 (18, 113)	5.5 (2, 11)
# multigene panel tests ordered in past 12 months	25 (19, 41)	6 (3, 21)
Minutes spent counseling patients before BRCA testing	67.5 (45, 90)	20 (15, 34)

^aValid % is provided, given missing values for one to two participants for these questions.

Knowledge

Nearly all respondents (91%) reported awareness of the Genetic Information Nondiscrimination Act (GINA), and 79% of respondents were aware of the more recent Supreme Court ruling on gene patents. Of all respondents, 90% understood individuals could inherit a predisposing mutation associated with HBOC from their father; however, a smaller proportion (75%) recognized that ≤10% of breast cancer is due to a germline BRCA mutation (Table 3). In addition, 17 respondents (19% of non-GPs) incorrectly indicated a woman with a strong family history of breast cancer, suggestive of HBOC, who tested negative for a mutation in the BRCA genes, would be at similar risk for cancer as women in the general population.

Table 3.

Knowledge/Awareness, Risk Assessment, Pretest Counseling, and Genetic Testing

	Genetic professionals (n = 10)		Nongenetics professionals (n = 91)
	n	%	n	%	valid%
Hereditary breast cancer knowledge
Females can inherit BRCA1 mutation from father's side
Yes	10	100	81	89	92
No			3	3	3
not sure			4	4	5
% breast cancer patients with germline BRCA mutation				0
≤10%	9	90	67	74	75
>10%	1	10	20	22	22
Not sure			2	2	2
Aware of Supreme Court ruling on gene patent (% yes)	10	100	70	77	78
Aware of Genetic Information Nondiscrimination Act (GINA) (% yes)	10	100	82	90	93
Genetic Risk assessment Practices: (number and% who offer the following clinical services)
Obtain three generation family medical history	10	100	48	53	54
Evaluate the absolute risk that a patient will develop specific types of cancer based on family and personal medical history	10	100	46	51	52
Determine risk that a patient carries a heritable or germline mutation in a cancer susceptibility gene	9	90	51	56	57
Identify potential hereditary cancer syndromes that should be considered	10	100	80	88	90
Pretest counseling (number and% who usually discuss each element before testing)
Purpose of the genetic test	10	100	90	99	100
General information about the gene to be tested	10	100	85	93	94
Implications of a positive result (deleterious mutation)	10	100	87	96	97
Meaning of a negative result (NO mutation)	10	100	81	89	90
Meaning of a variant (uncertain) result	10	100	46	51	53
Alternatives to genetic testing	9	90	73	80	85
Costs of the test (insurance coverage)	10	100	84	92	95
Chance of passing a gene mutation on to children	10	100	83	91	92
Psychological impact of testing (benefits and risks)	10	100	68	75	76
Protections against discrimination	8	80	74	81	83
Life and disability insurance issues	7	70	51	56	58
Potential impact of test result on medical care	10	100	80	88	91
Benefits and limitations of risk management options (e.g., screening, surgery, chemoprevention)	10	100	77	85	87
Implications of test results to family members (importance of sharing results)	10	100	86	95	96
Genetic testing practices: (number and% who offer the following)
Offers testing for hereditary breast cancer	10	100	91	100	100
Offers testing for hereditary ovarian cancer	10	100	86	95	96
Offers test for hereditary colon cancer	9	90	73	80	81
Obtains written consent before testing	10	100	70	77	80
Would facilitate testing of minors for hereditary breast cancer if mutation present in family	0	0	32	35	35
Would test for VUS in unaffected sister	2	20	80	88	94
Has ordered multigene panel testing	9	90	38	42	46
Has ordered from laboratory other than Myriad	8	80	11	12	12

Genetic service provision and testing

Among all participants, 78% reported usually completing 11 of the 14 counseling elements common to national practice guidelines (Table 1). However, several notable trends were found in genetic service provision and testing based on professional training (Table 3). GPs were more likely than non-GPs to report taking a 3-generation family history (p = 0.005) and discussing the possibility of a VUS test result (p = 0.004). Although not statistically significant, GPs were also more likely to report they usually or always obtain written informed consent for testing (p = 0.06).

Most respondents reported ordering genetic testing for more than one type of hereditary cancer, but 46% previously ordered panel-based multigene testing. GPs were more likely than non-GPs to have ordered a multigene panel test (p < 0.01) and to have ordered a test from a laboratory other than Myriad (p < 0.001). The top reasons for ordering from a laboratory other than Myriad were “other lab charges less money” (89%) and “included as part of a multigene panel test” (74%). Top reasons for never having ordered from another laboratory included “satisfied with Myriad” (48%) and “unaware other labs offer it” (35%).

Compared to 20% of GPs, 88% of non-GPs indicated they would conduct clinical testing in an unaffected sister of a breast cancer patient with a VUS (p < 0.001). Finally, GPs were less likely than non-GPs to report facilitating testing for HBOC in minors (0% versus 35%, respectively; p = 0.02).

Discussion

Despite the evolving paradigm shift of genetic testing practices, our study results indicate that respondents report completing most of the pretest counseling elements recommended by ASCO and NSGC in their professional practice guidelines (Robson et al., 2010; Berliner et al., 2013). However, there remain opportunities to provide additional outreach and education, particularly among non-GPs, to enhance knowledge, promote adherence to genetic testing practice guidelines, and to provide updates as testing evolves.

One of the recent changes in the genetic testing landscape is the fall of the BRCA patent, following the 2013 U.S. Supreme Court ruling. Before this ruling, Myriad Genetics, which held and actively enforced the patent for these genes, had a monopoly on all clinical BRCA testing performed in the United States. Because multigene tests to evaluate for inherited breast cancer first became clinically available in March of 2012, before the fall of the patent, multigene tests did not initially include the BRCA genes. Since the patent was ruled invalid by the U.S. Supreme Court in June 2013, a multitude of laboratories began to include the BRCA genes in multigene tests, forcing competition in the genetic testing space for inherited breast cancer predisposition. Interestingly, our survey results found GPs were more likely than non-GPs to report ordering from a laboratory other than Myriad. The reliance on Myriad may be the result of Myriad's longstanding marketing, outreach, and networking efforts targeted to non-GPs. Moreover, our findings that GPs are more likely than non-GPs to have ordered multigene panel testing could be attributed to the limited access to multigene testing through Myriad genetics at the time the survey was conducted, despite its availability through several other laboratories. It will be of interest to see if this trend continues, given the variation in offerings from the many genetic test laboratories.

A concerning finding from our survey is that over one-third of non-GPs indicated they would facilitate testing of minors if a parent had an HBOC-associated mutation. Given that national practice guidelines (American Society of Clinical Oncology, 2003; Ross et al., 2013) state genetic testing in children for an adult onset condition is not typically recommended, our findings underscore another area to focus provider education efforts.

Most respondents in our study were aware of the federal GINA of 2008 (Hudson et al., 2008), which provides protections against health insurance discrimination (both individual and group) as well as protections against discrimination in the workplace, but GINA does not pertain to life, disability, or long-term care insurance (Hudson et al., 2008; Rothstein, 2008). In contrast to our findings, prior studies suggested low provider (Laedtke et al., 2012) and public (Parkman et al., 2015) awareness of this law. Specifically, a 2009 national survey of family physicians found approximately half was unaware of GINA, and even among those with basic knowledge of GINA, nearly half was unaware of GINA's limitations regarding life and other supplemental types of insurance (Laedtke et al., 2012). Similarly, limitations of GINA were only discussed by half of non-GPs in our study. It is possible that awareness of GINA was much higher in our sample than previously reported because our sample encompassed only respondents who conduct genetic testing, rather than a more general group of healthcare providers. In addition, the recency of our survey may reflect the overall increased awareness of genetic testing across the population (Evans et al., 2014).

Regarding public awareness, results from a study based on data from 4 states indicated that less than 20% of the adult population was aware of genetic nondiscrimination laws, yet the perceived importance of these types of laws was high, at 80% (Parkman et al., 2015). Patients' awareness of the limitations of GINA is important as they may face the possibility of being denied certain types of insurance in the future as a result of their genetic test. Furthermore, informed consent for genetic testing is required by the Florida State law (Title XLIV 760.40), and this involves helping patients understand the extent and limitations of legal protections resulting from GINA. This also represents one of the elements that multiple national organizations recommend before the conduct of genetic testing (as outlined in Table 1).

Another element recommended by multiple national organizations that was not routinely covered by non-GPs was discussion of the possibility of a variant of uncertain significance (VUS). VUS results mean that a change in a cancer predisposing gene was found, yet it is unknown if the change is a random variation of no clinical consequence or a pathogenic mutation that raises cancer risks. Given the increasing use of multigene testing, it has become increasingly important to prepare patients for a VUS due to the increased chance of receiving this type of result as more genes are tested. In addition to not discussing the possibility of a VUS result, most non-GPs reported that they would conduct clinical testing for a VUS in an unaffected family member of a breast cancer patient who received a VUS result. This action is not clinically indicated (Daly et al., 2016), given the result would not help in clarifying cancer risks or making medical recommendations, and inappropriate clinical testing among family members may result in unnecessary testing, anxiety for the patient and their family members, and wasted healthcare dollars. The indication of testing of unaffected family members for VUS is consistent with prior study findings from our research team (Pal et al., 2013) and others, (Plon et al., 2011), conducted before multigene tests were available.

Construction of a three to four generation family pedigree is considered to be an important element of genetic service provision by several organizations. We found that all GPs, but only half of non-GPs, reported taking a family pedigree, consistent with findings from prior studies by us and others (Vig et al., 2009; Pal et al., 2013; Wood et al., 2014). Since family history is typically needed to determine the appropriate test, interpret results, recommend appropriate medical screening and management recommendations, and identify other at-risk family members, failing to complete a comprehensive pedigree highlights the potential for inappropriate test selection.

Despite the lack of discussion of a few of the recommended pretest genetic counseling elements by a substantial proportion of non-GPs, 78% of respondents indicated that they usually cover 11 of 14 nationally recommended elements for informed consent (as outlined in Table 1) before testing. Similarly, a study examining patient-reported genetic counseling experiences found patients who saw a non-GP and recalled a discussion before testing reported most elements were included (Cragun et al., 2015). Nevertheless, just under half of patients seen by a non-GP did not even recall having any pretest discussion. Furthermore, even among those who did, laws that protect against discrimination and issues related to disability insurance were not typically included in the discussion according to the patient report.

Currently, no standard criteria exist to assess the level of competence of healthcare providers with diverse training and backgrounds who order genetic testing for hereditary cancer syndromes. For example, the Commission on Cancer Guideline indicates cancer genetic services may be provided by an informed physician with no specific certification [Commission on Cancer/National Accreditation Program for Breast Centers (NAPBC), 2014]. Several academic centers provide specialized training in hereditary cancer to practicing healthcare providers, but it is difficult to verify those who have received high-quality training in the absence of formal certification or credentialing. Genetic certification programs currently exist for nurses, but such credentials were not apparent among our nursing participants. Subsequently, all providers without a professional degree in genetics were grouped together in our analysis. Several of these providers may have had high-quality genetics training, yet it is not possible, based on their credentials, to distinguish them from the 33% who reported having had no genetics education or training. It was also not possible for us to determine the quality and nature of training participants received through courses, workshops, or commercial laboratories.

Interestingly, conclusions from a brief survey completed by The American Society of Breast Surgeons suggest support for the delivery of cancer genetic services by breast surgeons and state that they already perform the key elements considered necessary for appropriate genetic testing (Beitsch and Whitworth, 2014); however, the survey only asked about a few of the elements included in Table 1 and thus provides insufficient evidence that practice guidelines are being followed (Cragun et al.). Although most of our diverse group of healthcare providers reported covering most of our more comprehensive list of pretest elements, there is wide variability in the average amount of time providers reported spending on pretest discussion with patients; raising questions about the extent to which elements can be covered relative to the short time period reported by many non-GPs. In fact, over half of non-GPs in our study reported spending an average of 20 min or less and nearly a quarter spent 10 min or less in pretest discussion. The reported short duration of time is consistent with findings in our prior reports based on patient level data where 89% of patients who saw a non-GP reported pretest discussions lasting <30 min (Pal et al., 2014).

The added complexity of results associated with multigene panel testing led the NCCN to recommend its use under the guidance of a professional with specific expertise in genetics (Daly et al., 2016). However, the strains on the current GP workforce highlight important roles that non-GP providers play in both identifying and managing individuals at increased risk (Obstetricians and Gynecologists, 2009). Furthermore, it remains important to clarify the roles and training necessary for non-GPs to be recognized as having specific expertise in genetics. For example, providing non-GPs with personalized training in genetics (Blazer et al., 2011), credentialing those who complete high-quality genetic training courses, establishing a genetic service collaboration within the community setting (Cohen et al., 2009), or through monthly web-based case conferences focused on inherited cancer predisposition such as our own that reaches providers across the southeast and beyond (Radford et al., 2014) are a few solutions that may enhance the quality of genetic services that patients receive. In addition, it may be necessary to increase efficiency of genetic service delivery to increase patient volumes, as it may not be sustainable to continue spending over an hour in pretest counseling as half of the GPs in our study reported doing.

Our study has a number of strengths, including real-world implications for genetic service delivery because the majority of hereditary cancer testing within the United States is ordered in the community setting (Keating et al., 2008). In addition, this study is among the first to assess knowledge and/or genetic service provision among health providers with and without formal training in genetics during a time frame where the landscape of genetic testing services for hereditary cancer is rapidly changing. Despite these strengths, there remain some limitations, including the cross-sectional nature of the survey, reliance on self-reported data, and small number of GPs limiting our statistical power. Thus, we limited the number of statistical tests that were conducted and did not adjust for multiple comparisons. Our results may present a more positively skewed view of genetic service provision, given that our respondents were more knowledgeable about genetics than providers in previous nationally representative surveys (Peterson et al., 2001; Wideroff et al., 2005; Myers et al., 2006). This is likely due to our limiting the sampling frame in this study to providers who have ordered genetic testing for hereditary cancer, whereas prior national surveys did not have such limitations.

Our findings highlight some targeted areas for provider education and partnership opportunities across disciplines, which have become more important with the paradigm shift to multigene testing. Although this testing may increase efficiency through enabling simultaneous assessment of multiple genes, it requires knowledge about an even broader range of cancer predisposing genes as well as which genes are included on the various panels offered through different laboratories. There are no clear or universal guidelines on when to order multigene panel testing; however, shortly after our survey was conducted, the National Comprehensive Cancer Network came out with guidelines indicating multigene panels can be offered when more than one cancer susceptibility syndrome could be possible (National Comprehensive Cancer Network, 2014). Regardless of the type of test or the laboratory from which it is ordered, providers need to be proficient in result interpretation, putting the result in proper clinical context, and making appropriate management recommendations.

Results of our study provide a snapshot of genetic testing practices for inherited cancer predisposition among healthcare providers across Florida, at a time when the paradigm for genetic testing is rapidly changing. Our findings show most providers report covering the majority of key elements of informed consent for genetic testing; however, there were a few differences between GPs and non-GPs, including the amount of time spent in pretest counseling, slower adoption of panel-based multigene testing, and lower likelihood of discussing the possibility of a VUS. Although respondents in this survey were more knowledgeable than in previous studies, ongoing knowledge gaps highlight the ongoing need for genetics education. Future studies will be needed to continue monitoring the evolution of genetic testing practices and to evaluate the impact of other recent policy changes, such as the requirement of some insurance companies that patients undergo genetic counseling before genetic testing.

Acknowledgments

This study was funded by a Florida Department of Health Bankhead-Coley grant (IBG09-34198 and 4BB15). Support for Deborah Cragun's time was provided through an NCI R25T training grant awarded to Moffitt Cancer Center (5R25CA147832-04). Dr. Courtney L. Scherr was supported by the R25 CA 090314 Behavioral Oncology Education and Career Development grant during part of this study.

This study was supported by a grant through Florida Biomedical (IBG09-34198). However, Florida Biomedical played no role in the study design, data collection, data analysis, or the decision to publish this research. The authors have no real or perceived conflicts of interest to disclose. The authors report no competing financial interests or personal relationships that might bias this research.

Author Disclosure Statement

No competing financial interests exist.