Genetic Counselor Involvement Research Articles

"I didn't have to worry about it": Patient and family experiences with health system involvement in notifying relatives of genetic test results.

In the U.S., patients who undergo genetic testing for hereditary cancer risk are responsible for informing relatives about their genetic test results, but many relatives never find out they might be at risk. A health system-mediated relative notification program might help fill this gap, but questions remain about the acceptability of this approach. We analyzed qualitative data from a single-arm, nonrandomized, mixed-methods study to understand how patients and families experienced a new health system-mediated relative notification program. We invited all study participants to participate in semi-structured telephone interviews at 6-8 weeks after return of genetic test results. We used a template analysis approach to thematically analyze interview transcripts. We interviewed 32 participants, including 17 probands and 15 relatives. Relatives reported positive experiences with the notification program, noting they felt in control of decisions and appreciated genetic counselor involvement in communicating the proband's test results. Benefits of direct contact included reduced burden for probands, increased family discussions about health, and notification of relatives who otherwise would not have learned results. No participants reported adverse effects from the program. Overall, the relative notification program was acceptable to participants and supported probands in reaching at-risk relatives who otherwise might not have been notified. These findings could inform the implementation of future genetic risk family notification programs with the potential to improve uptake of cascade testing and advance cancer prevention and early detection efforts.

The Effects of National Insurance Coverage Expansion and Genetic Counseling's Role on BRCA1/2 Mutation Tests in Breast Cancer Patients.

This study aims to evaluate the impact of South Korea's national insurance coverage (NIC) expansion and the addition of genetic counselors on BRCA1/2 mutation testing rates in breast cancer patients. A retrospective review was conducted at the Samsung Medical Center (SMC), dividing patients into three groups: pre-NIC expansion, post-NIC expansion, and post-extra genetic counselor involvement. The number of BRCA1/2 tests performed and the detection rates among newly diagnosed and follow-up patients, particularly focusing on triple-negative breast cancer (TNBC) cases, were analyzed. Post-NIC expansion, there was a significant increase in BRCA1/2 testing rates, with a gradual rise in detection rates while maintaining statistical significance. TNBC patients under 60 experienced substantial increases in testing rates. The number of follow-up patients recalled for testing also rose significantly after the extra genetic counselor involvement. Additionally, NIC expansion increased insurance coverage for TNBC patients, enhancing accessibility to testing. The study highlights the positive impact of NIC expansion and genetic counselor involvement on BRCA1/2 mutation testing rates and subsequent patient management. Addressing financial barriers to testing and incorporating genetic counseling significantly improve patient outcomes. This model provides a potential strategy for enhancing early detection and personalized treatment for breast cancer patients with BRCA1/2 mutations, contributing to global cancer management efforts.

Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties.

The augmented use of genomic testing across different medical subspecialties has led to increased involvement of genetic counselors (GCs) in specialized areas of medicine. However, the lack of educational infrastructure required for changing scholastic needs of GCs entering new subspecialties lends to the burden of self-directed learning and inconsistent knowledge. We conducted a cross-sectional study surveying GCs with experience in the emerging genetic subspecialties of Immunology, Dermatology, Endocrinology, and Pulmonology (abbreviated as "IDEP") on current practices, clinical challenges, and educational strategies undertaken while working in these settings. We compared knowledge and confidence in skills related to IDEP patient care between GCs who do (experienced cohort) and do not (control cohort) practice in these settings to assess their comfort with working in subspecialties. Participants were recruited from the National Society of Genetic Counselors membership. A total of 304 GCs (178 experienced and 126 control) completed the survey. Most GCs in the experienced cohort saw IDEP patients by themselves (n = 104; 58.4%) or with a geneticist (n = 97; 54.4%) and almost all (n = 176; 99%) cited GeneReviews as a primary informational source for IDEP genetics but half (n = 91; 51.1%) agreed that a dedicated online course would be the best way to learn about a specific subspecialty. The experienced cohort scored higher on confidence in all skills (p < 0.001, z = 7.32) and knowledge (p < 0.001, z = 5.68) related to IDEP genetics than the control cohort. Previous exposure to IDEP through graduate school coursework and rotations positively correlated with better self-confidence in skills (p = 0.02, z = -2.19; p < 0.001, z = -5.25) and genetic knowledge (p = 0.03, z = -2.09; p < 0.001, z = -2.81) related to IDEP patient care. Years of experience working as a GC did not correlate with better confidence in skills (p = 0.53) or better IDEP genetic knowledge (p = 0.15). Our findings show that provision of opportunities for increased exposure to subspecialties could help maximize GCs' ability to work in emerging niche fields.

Parent perspectives on disclosing a pediatric neurofibromatosis type 1 diagnosis.

Neurofibromatosis 1 (NF1) is a common genetic disorder typically diagnosed in childhood and characterized by cutaneous findings, nerve sheath tumors, skeletal abnormalities, malignancies, and developmental differences. Due to its variability, NF1 is an unpredictable condition that parents have concerns about discussing with their children. While there are publications addressing the disclosure of genetic conditions in general, no NF1-specific disclosure literature exists. To fill this gap, this mixed methods study sought to evaluate the concerns, barriers, failures, or successes parents or guardians have experienced when they have or have not chosen to tell their child(ren) about an NF1 diagnosis. Parents of children between ages 0 and 17 with a diagnosis of NF1 completed a survey and some parents were selected for an interview invitation. A total of 258 surveys were completed, and 20 parents were interviewed. Interview transcripts were categorized into disclosure and non-disclosure groups. Themes were organized into five categories based on interview questions: disclosure concerns, factors affecting disclosure/non-disclosure, approaches to disclosure, desired resources, and recommendations for disclosure. Sentiment analysis was performed on responses about the disclosure discussion itself. Results indicated that most parents (70.5%) disclosed the NF1 diagnosis to their child and overall felt it was a positive experience. Almost one-third of parents (29.5%) had not disclosed the diagnosis. A strong significance was identified between disclosure and severe presentation of NF1 (p = 0.0008). Parents in both groups shared similar concerns about discussing the diagnosis and multiple factors influenced the disclosure decision. Most parents approached disclosure as a process and emphasized the need to be honest and supportive of their child. Parents highlighted the need for more educational resources for children and guidance on how to disclose. These findings indicate that additional resources and support for parents would facilitate disclosure and the involvement of genetic counselors in the process would be beneficial.

Comparison of genetic testing documentation between genetic counselors and non-genetic counselors.

Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequency of documentation of pre- and post-test counseling of genetic testing between GCs and genetics providers (GPs), and GCs and non-genetics providers (NGPs). A retrospective chart review of 467 charts from patients who had genetic testing ordered between July 2016 and June 2018 at a primarily pediatric institution was conducted. GCs were involved for 223 charts (GC group), and not involved for 244 (non-GC group). The non-GC group was further stratified into patient charts with Genetics Providers (GP group) (n=100) involved and those with Non-Genetics Providers (NGP group) (n=144) involved. Categorical, binomial, pre-test variables (counseling, test description, results possibilities, insurance coverage, and cost) and categorical, binomial, post-test variables (results disclosure, family testing recommendations, recurrence risk, and provided resources) were collected and compared using Fisher's exact test (p < 0.005). With the exception of test description, documentation for all variables occurred more frequently in the GC group compared to the NGP group (all p < 0.001). Documentation for the majority of variables also occurred more frequently in the GC group compared to the GP group (p < 0.005), with the exceptions of overall pre-test counseling and family testing recommendations. GC involvement was associated with increased documentation of most pre- and post-test genetic counseling variables. With increased emphasis placed on transparency, accurateness, and access for patients of the EMR, in part due to the passage of the CARES Act, documentation should reflect the content of counseling provided. The cause of the documentation discrepancy identified may have differing effects on patient care and provider education.

Germline BRCA testing in pancreatic cancer: improving awareness, timing, turnaround, and uptake.

Prognosis is generally poor for patients with pancreatic ductal adenocarcinoma. However, patients with germline BRCA1 or BRCA2 mutations (gBRCAm) may benefit from first-line platinum-based chemotherapy and maintenance therapy with the poly(adenosine diphosphate-ribose) polymerase inhibitor olaparib following at least 16 weeks of first-line platinum-based chemotherapy without disease progression. Germline breast cancer gene (BRCA) testing is therefore important to ensure that patients receive the most effective treatment. In addition, testing for other DNA damage response gene mutations beyond gBRCAm may also guide treatment decisions. However, clinical pathways for genetic testing are often suboptimal, leading to delays in treatment initiation or missed opportunities for personalized therapy. Barriers to testing include low rates of referral and uptake, delays to referral and slow result turnaround times, cost, and biopsy and assay limitations if somatic testing is performed, leading to the requirement for subsequent dedicated germline testing. Low rates of referral may result from lack of awareness among physicians of the clinical value of testing, coupled with low confidence in interpreting test results and poor availability of genetic counseling services. Among patients, barriers to uptake may include similar lack of awareness of the clinical value of testing, anxiety regarding the implications of test results, lack of insurance coverage, fear of negative insurance implications, and socioeconomic factors. Potential solutions include innovative approaches to testing pathways, including 'mainstreaming' of testing in which BRCA tests are routinely arranged by the treating oncologist, with the involvement of genetic counselors if a patient is found to have a gBRCAm. More recently, the utility of multigene panel analyses has also been explored. Access to genetic counseling may also be improved through initiatives such as having a genetic counseling appointment for all new patient visits and telemedicine approaches, including the use of telephone consultations or DVD-assisted counseling. Educational programs will also be beneficial, and cost effectiveness is likely to improve as the number of targeted treatments increases and when the earlier detection of tumors in family members following cascade testing is considered.

A delivery service model for genetics: The use of a genetic counselor and nurse practitioner team for diagnosis and care in specific condition populations.

Many genetic centers are developing innovative delivery models for services to address the growing need for access to genetics in the setting of a limited genetics-certified workforce. In the literature review, alternative service delivery models-including telehealth and genetic counselor involvement with nongenetics specialty providers-aim to increase efficiency, patient access, and provider satisfaction. This paper outlines a traditional model of pediatric care, with a workflow involving a geneticist and genetic counselor, from preclinic to follow-up. We then present a workflow model of a collaborative team consisting of a genetic counselor and nurse practitioner in condition-specific pediatric clinics. We break down factors influencing the successful implementation of this model, including patient selection, pre-established and adaptive clinic goals, and differentiation of roles of the providers. Potential barriers to generalization and the ongoing success of this clinic model include provider interest in genetics and the necessity for careful triaging by clinicians. Formalized analysis of these clinics has not been performed, though at the presented institution, this clinic model is recognized as an effective way to decrease wait times for patients referred for specific indications and creates an environment that allows providers to specialize, increasing their expertize and confidence in particular genetic areas.

Take a Leap of Faith: Implement Routine Genetic Testing in Your Office

Genetic testing is a state-of-the-art and readily accessible diagnostic tool and is increasingly indicated in the evaluation process when relevant and possible, although incorporation of this modality into the daily practice of allergists-immunologists in both academic and nonacademic or community settings is still a challenge. Educational sessions and resources support the use of genetic testing in the diagnosis and management of primary immunodeficiency by both the American Academy of Allergy, Asthma & Immunology and the Clinical Immunology Society. Genetic testing for primary immunodeficiency has become much more convenient and affordable over the past decade; allergist-immunologists in private practice are now able to offer patients high-quality and comprehensive genetic testing panels to help diagnose or characterize underlying immune abnormalities among patients with recurrent infections, and even patients with allergic disorder and noninfectious complications. Although genetic testing has not been a commonplace consideration in day-to-day practice for many nonacademic specialists, a shift toward adopting this into our standard toolkit should be taking place. Most of the commercial genetic testing is aiming for a panel of genes ranging anywhere from just a few to several hundred, so the specialist can feel comfortable clearly interpreting the data. As the panels are analyzing data from next-generation sequencing and deletion/duplication assays, this evaluation may need to be repeated when panels expand and include new relevant genes. Ultimately, for undiagnosed cases, whole-exome and whole-genome sequencing can be the next step; however, involvement of genetic counselors may be needed to interpret the data. The value of genetic testing is that it may bring the clinician closer to an accurate diagnosis; therefore, we can keep treating our patients more accurately and effectively, which may result in less frequent follow-ups for unresolved or recurrent problems. In addition, we can then provide patients and their families with important information about the root cause of their disease state, risks to other family members, and offer genetic counseling services. Genetic testing results may also aid in recognizing when a referral to expert colleagues for more advanced and specialized treatments is indicated.

OP027: Patient-initiated genetic counseling through an online hereditary cancer questionnaire

Genetic testing is an important component of early detection and prevention of cancer for individuals and families with possible hereditary cancer predisposition. The literature confirms that appropriate referral rates have been historically low for these patients. It has also been demonstrated that genetic counselor involvement increases appropriate referral rates. The High-Risk Cancer Genetics Program (HRCGP) at NYU Langone Health implemented a public facing online cancer history questionnaire, which allows individuals to input data and receive notification if they are eligible for genetic counseling and testing for hereditary cancer.

Direct-to-consumer genetic testing companies tell their customers to 'see a genetic counselor'. How do genetic counselors feel about direct-to-consumer genetic testing?

Professional societies, the FDA, and many direct-to-consumer genetic testing (DTC-GT) companies have highlighted the value of counseling from a medical professional with genetics expertise in order to enhance the value and minimize the risks associated with DTC-GT. However, there is limited information available identifying genetic counselors' own views on DTC-GT, their willingness to counsel consumers based on DTC-GT results, and their experiences to date seeing DTC-GT consumers in a clinical setting. We surveyed genetic counselors accessed through mailing lists associated with the National Society of Genetic Counselors (NSGC) and the American Board of Genetic Counseling (ABGC). Response rate was estimated to be 12.2% (n=482). A majority of all respondents (56.4%, n=263) described themselves as feeling negatively or very negatively toward DTC-GT; only 6.9% (n=32) described themselves as feeling positively or very positively. While 90.9% of respondents (n=398) believed that DTC-GT would be improved with the involvement of genetic counselors, only 31.2% agreed or strongly agreed that they are comfortable providing counseling to DTC-GT consumers (n=142). Clinical counseling of DTC-GT consumers is not routine but it is also not uncommon; 40.1% of all respondents (n=189) have seen at least one consumer in clinic for the sole purpose of reviewing DTC-GT results. The results of our study suggest that most respondents would be more accepting of DTC-GT if genetic counseling was a part of the process, but the majority of counselors do not feel comfortable providing this service.

Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.

Families of infants with a positive newborn screen for cystic fibrosis (CFNBS+) have well-characterized genetic counseling needs, including understanding the implications of diagnostic categorization. However, degree of involvement of genetic counselors (GCs) in the CFNBS+ diagnostic resolution process varies. This project explored GC engagement with US CF care centers in the diagnostic resolution process for CFNBS+ infants. Surveys were emailed to 713 Cystic Fibrosis Foundation-accredited CF center directors and clinic coordinators and 4,517 GCs. Respondents from institutions providing CFNBS+ diagnostic resolution were categorized by level of engagement between the CF center and GC: GC is part of or embedded in CF center (GC-engaged); GC is independent of CF center but receives CFNBS+ referrals (GC-referral); GC is uninvolved (non-engaged)] in CF center or CFNBS+ diagnostic resolution process. Responses from 125 CF center directors and clinic coordinators (17.5%) and 174 GCs (3.8%) were received. Analysis targeted responses from 84 center directors and clinic coordinators and 52 GCs, estimated to represent 24%-48% and 29% of 175 pediatric CF care centers, respectively. Nearly 40% of CF center directors or clinic coordinators never refer CFNBS+ infants to GCs. Respondents from GC-engaged CF centers reported that GCs provide unique and valuable services, understand CF at a high level, improve efficiency of the CFNBS+ diagnostic resolution process, and should be part of the CF care team; respondents from non-engaged CF centers reported negative views of GCs' value and knowledge (all p<.05). GCs engaged with CF centers were more likely to report that their services were valued by and accessible to CF centers (both p<.05). At all levels of engagement with CF centers, GCs were comfortable discussing CF genotype-phenotype correlation, variants of unknown significance, quality of life, and therapies. These results highlight a need to address practice variation in CFNBS+ genetic counseling and improve access to GCs' services.

Genetic counselor involvement with abnormal immunohistochemistry results improves genetic testing in patients with endometrial cancer

Genetic counselor involvement with abnormal immunohistochemistry results improves genetic testing in patients with endometrial cancer

Familial hypercholesterolemia: experience from France.

We provide an overview of molecular diagnosis for familial hypercholesterolemia in France including descriptions of the mutational spectrum, polygenic susceptibility and perspectives for improvement in familial hypercholesterolemia diagnosis. Molecular testing for familial hypercholesterolemia is recommended for patients with a LDL-cholesterol level above 190 mg/dl (adults) associated with criteria related to personal and family history of hypercholesterolemia and premature cardiovascular disease. Among the 3381 index cases included with these characteristics in the French registry for familial hypercholesterolemia, 2054 underwent molecular diagnosis and 1150 (56%) were found to have mutations (93.5% in LDL Receptor (LDLR), 4.7% in apolipoprotein B and 1.8% in Proprotein convertase subtilisin/kexin type 9). A total of 416 different pathogenic variants were found in the LDLR gene. Based on gene score calculation, a polygenic origin may be suggested in 36% of nonmutated patients. Involvement of genetic counselors and education of healthcare professionals for genetics of familial hypercholesterolemia are underway with the aim of improving the efficiency of the diagnosis. Genetic cascade screening for familial hypercholesterolemia is currently implemented in France with the complexity to address the diversity of its molecular cause in index cases. Optimization of patient care pathways is critical to improve both the rate of diagnosis and the management of familial hypercholesterolemia patients.

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.

There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services.

Knowledge and Practice Regarding Hereditary Cancer Syndromes among Family Physicians

Objective: To assess current knowledge and practices around hereditary cancer among family physicians in Colorado. Methods: We surveyed a random sample of 300 family physicians to assess: knowledge and comfort in management of at-risk patients, use of family history to inform clinical decisions, guidelines used for screening and genetic referrals, and frequency of referrals with and without involvement of genetic counselors. We generated descriptive statistics and compared physicians that reported greater knowledge around management of high risk patients and routine use of family history to inform practices, to those who did not, with respect to demographic and practice characteristics. Results: A minority of physicians reported high knowledge of hereditary cancer syndromes, recommendations for screening high risk patients, and risk assessment; only 10% reported high level of comfort in referring their patients for genetic risk assessment. Physicians who collected complete family histories were more likely to report high knowledge about hereditary cancer, and to use family history to guide recommendations. Few physicians reported using recommendations from organizations focused on high risk patients Conclusions: Physician-focused education initiatives should focus on raising awareness of hereditary cancer syndromes in primary care settings, use of risk-appropriate guidelines, and the importance of collecting comprehensive family histories to identify patients at risk.

Familial adenomatous polyposis in pediatrics: natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate.

Familial adenomatous polyposis (FAP) is a hereditary condition with a near 100% lifetime risk of colorectal cancer without prophylactic colectomy. Most patients with FAP have a mutation in the adenomatous polyposis coli gene on chromosome 5q22. This condition frequently presents in children with polyps developing most frequently in the second decade of life and surveillance colonoscopy is required starting at age ten. Polyps are found not only in the colon, but in the stomach and duodenum. Knowledge of the natural history of FAP is important as there are several extra-colonic sequelae which also require surveillance. In infants and toddlers, there is an increased risk of hepatoblastoma, while in teenagers and adults duodenal carcinomas, desmoid tumors, thyroid cancer and medulloblastoma are more common in FAP than in the general population. Current chemopreventive strategies include several medications and natural products, although to this point there is no consensus on the most efficacious and safe agent. Genetic counseling is an important part of the diagnostic process for FAP. Appropriate use and interpretation of genetic testing is best accomplished with genetic counselor involvement as many families also have concerns regarding future insurability or discrimination when faced with genetic testing.

Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists' (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5% response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82%) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92%). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88%), genetic testing (78%), and general genetics questions (66%). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32% of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36% of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.

Commentary on “Conceptualizing Genetic Counseling as Psychotherapy in the era of Genomic Medicine”

Before commenting directly on the article by Austin, Semaka, and Hadjipavlou (2014), I need to state my bias on this issue very clearly: As a counselor educator, counseling psychologist, and professional clinical counselor who has taught counseling techniques to genetic counseling students for more than 30 years, I have always strongly endorsed Kessler’s (1997) perspective that genetic counseling incorporates two core functions. The first function is the effective communication of information related to the genetic aspects of a wide variety of medical conditions. This information needs to be accurate, current, and expressed in a way that is understandable to patients who may have no medical or scientific background. The information-giving (teaching) part of genetic counseling is a complex and difficult task in that it not only requires a depth of knowledge but also a high level of interpersonal skill (e.g., reading a patient’s nonverbal confusion after an attempted explanation or recognizing that sometimes a carefully placed question may reveal what the patient is not understanding). The second core function of the genetic counselor task is to serve as a counselor (or psychotherapist), aiding the patient’s exploration of his/her emotional reactions and psychosocial concerns related to the genetic information presented. This second component of a genetic counselor’s work is emphasized in the Accreditation Council for Genetic Counseling (Accreditation Council for Genetic Counseling 2013 ,p p. 3–4) Practice-Based Competencies under Domain II: Interpersonal, Psychosocial and Counseling Skills. This section of the document includes core competencies clearly reflective of psychotherapy skills:

Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process

The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.

Abstract P4-11-03: Single nucleotide polymorphism testing for breast cancer risk assessment: patient trust and willingness to pay

Abstract Background: The field of breast cancer risk assessment is advancing rapidly with recent discoveries about risk conferring single nucleotide polymorphisms (SNPs). While these discoveries can promote personalized medicine, they are often brought to the market with direct to consumer (DTC) testing before data can support their widespread use and before reliable options for dealing with testing outcomes can be offered. In this context, and knowing that patients often misunderstand risk information, it is unclear how patients will respond to these options. Methods: We surveyed high risk women's interest in SNP testing. Participants were recruited from the Cancer Genetics Network (CGN), a national network of cancer centers that maintains a database of individuals with a family history of cancer. Participants were asked to answer questions regarding their interest in SNP testing including: whether they trust it, how much they would be willing to pay for testing, how they prefer to be tested, and how they would proceed with information identifying them as below or above average risk. Results: 189 women without a history of breast cancer or SNP testing completed the questionnaire. The average age of the participants was 49, ranging from 30 to 65. All participants had at least one relative with breast or ovarian cancer. 13% had previously tested positive for a BRCA mutation, and 33% had received BRCA testing. Most women (90%) did not know what SNP testing was prior to the survey. Once SNP testing was described, 68% of women were interested in DTC SNP testing; at the same time, only 38% of the participants reported that they trusted DTC SNP testing. Conclusion: While our results show that women are interested in DTC SNP testing, their willingness to pay is lower than the DTC cost (∼$300). Involvement of genetic counselors and providers in SNP testing discussions may be needed to overcome the current lack of trust of DTC testing among patients. Many women showed interest in lifestyle interventions, suggesting that these interventions should be incorporated as part of standard follow-up recommendations. When identified by SNP testing as “below average” risk, women do not seem to trust the results enough to forego regular mammograms. As DTC testing becomes more common, and as more SNP tests become available, it will be necessary for the medical community to address patients' interest in these tests and to assist in interpreting results. Citation Information: Cancer Res 2012;72(24 Suppl):Abstract nr P4-11-03.