Impact of a genetic counseling requirement prior to genetic testing

Genetic testing for variants in cancer predisposition genes has become common clinical practice for hereditary cancer risk assessment. As such, professional society guidelines incorporate widely agreed upon criteria to identify patients appropriate for testing as well as gene-specific recommendations for risk-reducing medical management [1, 2]. However, there are some concerns that the growing demand for genetic testing may cause an increase in inappropriate testing among patients who do not meet guidelines [3]. This may create additional health care costs with uncertain impact on the short and long term benefit to patients.

In response to the potential rise in inappropriate testing, there is a growing move towards mandatory genetic counseling from a board-certified Genetic Counselor (GC) or Geneticist prior to BReast CAncer gene 1 (BRCA1) and BRCA2) testing [4, 5]. Genetic counseling provides many benefits to patients, including the identification of patients appropriate for testing, patient education, and appropriate medical management [6]. While these services have traditionally been provided by GCs, the growing demand for genetic testing has surpassed the capacity of these specialists [7‐9]. The traditional referral model for genetic testing is also known to suffer from poor patient compliance due to poor understanding of insurance coverage [10] as well as concerns about accessibility, logistics and/or cost [11]. Overall, anywhere from 33 to 87% of patients referred to a GC do not follow-through [12‐14].

In response to these known barriers, many health care providers are incorporating collaborative models for genetic counseling. These models require additional genetics education for non-specialists and incorporate genetic counseling and testing by medical and gynecologic oncologists, surgeons, and primary care providers [8, 9, 15‐17]. Many professional medical societies have also released statements supporting genetic counseling and testing as part of routine care [18‐20]. Despite this enhanced genetics training and evidence of increased appropriate testing, some of the largest health care plans in the U.S. have a requirement for genetic counseling by a certified GC prior to genetic testing [21]. Although such policies may encourage access to the knowledge and expertise of these specialists, this may also place an undue burden on patient time and finances as well as delay or prevent risk-reducing medical management. As such, the intended advantages of a mandatory GC requirement must be balanced against the unintended consequence that patients at increased cancer risk may not be tested.

The aim of this study was to evaluate the patient level impact of an insurance-mandated requirement for genetic counseling by a GC or board certified geneticist prior to genetic testing for BRCA1 and BRCA2 (GC-mandate policy). This was done by evaluating patient survey responses regarding personal experience with genetic testing and GC consultation, as well as decisional conflict (i.e. feeling uninformed or uncertain about testing decisions). Responses were compared according to time period (before or after GC-mandate policy introduction) and genetic test completion.

With the increased clinical use of genetic testing for hereditary cancer risk, there are concerns that inappropriate testing may rise. In response, there has been a shift by some insurance companies to require counseling by a GC prior to genetic testing. However, a previous study by Whitworth et al. showed that introduction of a GC-mandate policy decreased BRCA1/2 testing among patients with increased cancer risks [23]. Here we evaluated the patient impact of a GC-mandate policy by analyzing survey responses from individuals for whom BRCA1/2 testing was ordered before and after policy introduction.

Overall, the data presented here show minimal evidence of utility for the GC-mandate policy as demonstrated by decisional conflict scores and the deleterious mutation rate. After the introduction of a GC-mandate policy, there was little to no change in the decisional conflict, or extent to which respondents felt uncertain or uninformed during the genetic testing process. Survey responders who were tested after policy introduction were more aware of the choices they had in the decision to get genetic testing; however, there was no change in the proportion of patients who found the decision to get genetic testing difficult to make, were unsure what to do, needed more advice, or importantly felt they made an informed choice. It is noteworthy that the majority of survey respondents were Caucasian and almost half reported annual household incomes of at least $100,000. As such, the data presented here may indicate that consultation with a GC may have affirmed patients’ prior knowledge in an educated group of individuals of high socioeconomic class who were likely informed about genetic testing prior to meeting with a GC. While this would not be expected to affect decisional conflict, genetic counseling in this scenario may help solidify patient decisions.

Our study also demonstrates completion of genetic testing influences decisional conflict. Decisional conflict was significantly higher in all categories assessed among patients who did not complete genetic testing relative to those who were tested. Even when the overall decisional conflict scores were adjusted to account for seeing a GC, scores were significantly higher for those who did not complete BRCA1/2 testing. This suggests that responders who completed BRCA1/2 testing had comparatively lower decisional conflict scores because they received a test result and were informed by the results. Conversely, responders without BRCA1/2 testing may have been more conflicted about testing, since genetic testing was originally ordered and presumably desired by the patient and/or physician but subsequently canceled, provoking feelings of uncertainty regarding the process and their genetic risk for hereditary breast and ovarian cancer since they did not receive a result.

Survey responders indicated insurance, cost, and ‘testing not recommended by a GC’ as the three most common reasons for not completing genetic testing. This is consistent with another prospective study by Hayden et al. that evaluated value of GC prior to genetic testing [24]. In our study, there was a significant increase in responders citing ‘testing not recommended by GC’ after the GC-mandate. While it is unclear whether this is due to the increased proportion of patients who saw a GC, it may support the added value and role of GCs in patient education and selection to aid in testing decisions. A significant decrease in respondents citing costs as a reason for not completing testing was observed after the GC-mandate, which was potentially commensurate to the increase in testing not being recommend by a GC, mitigating the need and cost of testing.

After the introduction of the GC-mandate policy, there was an increase in the proportion of patients who saw a GC, as expected. However, there was no change in the patient-reported deleterious mutation rate. The introduction of a GC-mandate as a pre-approval process for insurers would be expected to reduce inappropriate BRCA1/2 testing, since one of the roles of the GC is to differentiate between patients for whom genetic testing is or is not appropriate. Improved patient selection for BRCA1/2 testing would be expected to produce a relative increase in the proportion of deleterious BRCA1/2 mutations identified in those tested. The absence of change in the deleterious mutation rate suggests that the GC-mandate did not improve patient selection for testing. While this study was not designed to formally assess appropriateness of testing, this finding is consistent with a previous report by Whitworth et al. showing that the laboratory-reported deleterious mutation rate did not change after the GC-mandate policy was introduced [23]. In addition, our multivariate analysis showed that patients were over three times more likely to be tested before policy introduction. Collectively, this suggests that the GC-mandate policy maybe preventing appropriate patients (i.e. those with increased hereditary cancer risk) from being tested. This highlights the importance of carefully evaluating policies and their effect on mitigating inappropriate testing while optimizing selection of patients for appropriate testing.

The benefits of genetic counseling are well described in the literature, and the patient experience with genetic counseling in our study was favorable and similar before and after the GC-mandate. Approximately 80% of respondents in both time periods felt they received benefit from genetic counseling and 87.5% of respondents would utilize genetic counseling in the future. However, there was a decrease in the proportion of patients who would recommend consultation with GC to a family member after the GC-mandate. Also, the proportion of patients who saw a GC to better understand their test results or who were recommended to see a GC by their physician decreased after policy introduction, likely due to the mandate for genetic counseling and education prior to testing. Among survey responders who did not see a GC, there was an increase after policy introduction in the proportion that cited insurance issues/requirements, cost, time constraints, and inconvenience as reasons for not receiving genetic counseling. Although GC consultation by phone was available as part of the GC-mandate policy, the concerns cited here are consistent with previously reported limitations and barriers of the traditional referral model for genetic testing [10, 11].

Several factors were found to be predictive of whether genetic testing would be completed, including consultation with a GC, as well as personal history of breast cancer and family history of ovarian cancer. Income was positively predictive, where survey responders who reported a household income of $25,000 or greater were more than three times as likely to complete genetic testing relative to responders with a household income less than $25,000. This suggests that the GC-mandate policy introduces barriers to care among low-income individuals, which is consistent with preliminary findings by Whitworth et al. that underserved populations may be disproportionately impacted by policy introduction [23].

A few limitations to this analysis are important to describe. Overall, the survey response rate was relatively low at 25.7%. Average survey response rates for studies utilizing data collected from individuals has been reported to be 52.7% [25]. Baruch et al. indicate primary reasons for non-response include failure to deliver survey to target population and individual reluctance to respond [25]. Both reasons may help explain the response rate observed. Between time of genetic testing and survey dissemination, survey participants may have relocated or no longer use the email address provided. More importantly, given the controversy surrounding privacy issues related to genetic testing, individuals may have felt hesitant to respond to our survey originating outside of their health care system and focused on a sensitive area. Although this survey was nationally distributed, study results should nevertheless be interpreted in context of survey responders’ demographics (minimal ethnic diversity, higher reported income).

Collectively, the data presented here suggest that there is minimal added utility in an insurance mandate requiring consultation with a GC prior to genetic testing. While there was an increase in the proportion of patients who saw a GC, the GC-mandate did not improve decisional conflict, or increase the deleterious mutation rate, and may have contributed to health disparities. As such, alternative models of patient selection for genetic testing should be considered.