Communication about DTC Testing: Commentary on a ‘Family Experience of Personal Genomics’

This paper provides a commentary on ‘Family Experience of Personal Genomics’ (Corpas 2012). An overview is offered on the communication literature available to help support individuals and families to communicate about genetic information. Despite there being a wealth of evidence, built on years of genetic counseling practice, this does not appear to have been translated clearly to the Direct to Consumer (DTC) testing market. In many countries it is possible to order a DTC genetic test without the involvement of any health professional; there has been heated debate about whether this is appropriate or not. Much of the focus surrounding this has been on whether it is necessary to have a health professional available to offer their clinical knowledge and help with interpreting the DTC genetic test data. What has been missed from this debate is the importance of enabling customers of DTC testing services access to the abundance of information about how to communicate their genetic risks to others, including immediate family. Family communication about health and indeed genetics can be fraught with difficulty. Genetic health professionals, specifically genetic counselors, have particular expertise in family communication about genetics. Such information could be incredibly useful to kinships as they grapple with knowing how to communicate their genomic information with relatives.     

Direct-to-Consumer Personal Genomic Testing: A Case Study and Practical Recommendations for “Genomic Counseling”

Technological advances and information-seeking consumers have pushed forward the movement of direct-to-consumer (DTC) genetic testing. Just like with other types of testing, there are potential risks, benefits and limitations. A major limitation of DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases, since most tests only analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is necessary to risk assessment. Further, it is not currently well-established whether personal genomic testing results will lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system. To display these and other issues, we present an in-depth case study of an individual who ordered DTC genetic testing and subsequently sought genetic counseling. This case presents a unique learning experience for the field of genomic counseling, as the patient did not fit the typical assumptions regarding ‘early adopters’ of DTC testing. It also allowed the genetics health care providers involved in the case to identify gaps in current genetic counseling practice that need to be filled and approaches to employ for successful delivery of genomic counseling. Based on our experience, we developed practical recommendations for genomic counseling, which include novel approaches to case preparation, use of electronic tools during the counseling session, and focusing on education as the major component of the genomic counseling session, in order to provide patients with the knowledge necessary to independently interpret and understand large amounts of genomic testing information provided to them.     

Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing

The purpose of this study was to assess primary care physicians’ awareness, experience, opinions and preparedness to answer patients’ questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education of providers will be necessary if testing becomes more widespread.     

Educational Needs of Primary Care Physicians Regarding Direct-to-Consumer Genetic Testing

To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing, surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%) were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing, but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should be used when creating educational programs.     

Psychological Distress with Direct-to-Consumer Genetic Testing: A Case Report of an Unexpected <Emphasis Type="Italic">BRCA</Emphasis> Positive Test Result

We report a case of a client who discovered she had a BRCA mutation following direct-to-consumer (DTC) genetic testing in the absence of genetic counseling. After testing she presented for genetic counseling with anxiety, distress, and a deficit of knowledge about what the DTC genetic testing revealed. Genetic counseling helped alleviate distress while empowering the client to apply the results of testing to improve medical management. Despite recent studies demonstrating no negative psychological impact of DTC genetic testing on the consumer, this case illustrates that significant psychological distress and confusion can occur as a result of DTC genetic testing for highly penetrant single gene disorders. Pre- and post-test genetic counseling in conjunction with DTC genetic testing may alleviate consumers’ distress and empower clients to proactively utilize their result information.     

Direct-to-Consumer Genetic Testing: What Are We Talking About?

The term Direct-to-Consumer (DTC) genetic testing refers to many different categories of testing. This editorial addresses the issues related to DTC testing for large effect and small effect variants associated with disease. In particular, there are issues of clinical validity and utility, informativeness and residual risk. Genetic counselors are poised to address these issues because of their training in probability and statistical models. The authors suggest that genetic counselors can impact the general public’s understanding of DTC test results by: including evaluation of DTC concepts in graduate program curricula, holding AEC plenary sessions about emerging DTC concepts, and helping other professionals understand DTC concepts. Importantly, genetic counselors are advised to continue doing and promoting rigorous research on how people access and use DTC genetic testing and results, as well as gathering empirical data so that discussions of harms and benefits can go beyond theory. It is our hope that genetic counselors in practice will continue to critically evaluate claims made about emerging new tests, including those marketed DTC, in order to provide the best possible services to our patients.     

Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

We are reporting what we believe to be the first published case of patient initiated direct to consumer (DTC) genetic testing to test for the presence of a known familial mutation. Our client in this case is from a known MSH2 family; both his/her parent and associated grandparent have previously tested positive for the known familial MSH2 mutation. Using 23andme’s “family inheritance genome-wide comparison” option we were able to determine that our client most likely inherited the known familial MSH2 mutation without pursuing single site genetic testing. Our client pursued DTC genetic testing instead of single site genetic testing due to the fear of genetic discrimination. This case shows that patients are still fearful of genetic discrimination, despite the passage of the Genetic Information Nondiscrimination Act (GINA), and that DTC genetic testing may be useful despite the overall negative feeling towards this type of testing in the genetic counseling community.     

Risky Business: Risk Perception and the Use of Medical Services among Customers of DTC Personal Genetic Testing

Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n?=?1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p?=?0.03), discussed results with a physician (p?=?0.05), changed their diet (p?=?0.02), and started exercising more (p?=?0.01). Participants’ personal health contexts—including personal and family history of disease and quality of self-perceived health—were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.     

Direct-to-Consumer Genetic Testing: Introduction to the Special Issue

This issue of the Journal of Genetic Counseling is devoted to direct-to-consumer (DTC) genetic testing. The 15 articles in this special issue address practice considerations for genetic counselors and other health care professionals; the benefits and limitations of DTC genetic testing; consumer and provider attitudes towards and experience with DTC testing; and the roles and educational needs of genetic counselors and other health care providers in providing and interpreting DTC genetic testing. In this introduction to the special issue, we provide a brief background on DTC genetic testing, summarize the important contribution of the articles included in this issue, and outline the essential work that still needs to be done as genetic counselors are increasingly engaged in discussions, education, and research about DTC genetic testing.     

Predictors of interest in direct-to-consumer genetic testing

Direct-to-consumer (DTC) genetic testing is an increasingly available option among individuals searching for information about their health risk factors and ancestry. This study is one of the first to examine predictors of interest in DTC genetic testing. Participants read one of the three types of information about DTC genetic testing (positive only, negative only or both) and reported perceptions of and intentions to pursue testing. The information which people read, their perceptions of the benefits of testing, their perceptions of the barriers to testing and anticipated regret predicted intentions to undergo testing. Interestingly, people who read both positive and negative information did not differ from people who read only negative information in their intentions to pursue testing. We discuss the implications of these findings for predicting interest in this relatively new type of genetic testing and for designing interventions to encourage (or discourage) testing.     

Predictors of interest in direct-to-consumer genetic testing

Direct-to-consumer (DTC) genetic testing is an increasingly available option among individuals searching for information about their health risk factors and ancestry. This study is one of the first to examine predictors of interest in DTC genetic testing. Participants read one of the three types of information about DTC genetic testing (positive only, negative only or both) and reported perceptions of and intentions to pursue testing. The information which people read, their perceptions of the benefits of testing, their perceptions of the barriers to testing and anticipated regret predicted intentions to undergo testing. Interestingly, people who read both positive and negative information did not differ from people who read only negative information in their intentions to pursue testing. We discuss the implications of these findings for predicting interest in this relatively new type of genetic testing and for designing interventions to encourage (or discourage) testing.     

Media Coverage of Direct-to-Consumer Genetic Testing

Media coverage of Direct-to-Consumer (DTC) genetic testing shapes public perception of such testing. The purpose of this study was to determine and assess the themes presented by U.S. news media regarding DTC genetic testing. We performed a Lexis-Nexis search with the keywords “Direct-to-Consumer” and “genetic test” for news stories published from 2006–2009. The sample was coded on themes of genetic determinism, privacy, discrimination, validity, regulation, the Genetic Information Nondiscrimination Act (GINA), utility, and cost. Ninety-two news stories were included. Stories displayed moderate genetic determinism and were neutral about validity and utility. Stories indicated that insurance and employers were the most likely sources of discrimination, yet identified the physicians and DTC companies as groups most likely to violate privacy. Stories claimed lack of regulation would harm consumers, but most post-GINA stories did not discuss the law. The costs of tests were frequently included. The results of this study show a broad range of views toward DTC genetic testing and its potential impacts. The genetics community should be aware that the public has been exposed to multiple views of DTC genetic testing when discussing these tests.     

Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease

This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington’s disease (HD) 20–30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing. Most—but not all—participants were in favor of an individual’s right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings.     

Communicating BRCA1/2 genetic test results within the family: A qualitative analysis

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants’ and recipients’ perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients’ and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals’ responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.     

Communicating BRCA1/2 genetic test results within the family: a qualitative analysis

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants' and recipients' perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients' and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals' responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.     

Psycho-social Counselling in Predictive Genetic Testing for Cancer: The Association Between Number of Supportive Sessions and Client Characteristics as Assessed by Psycho-social Workers

Given the increased demand on genetic services, it is important to identify clients who may require relatively more extensive psychosocial support. This paper describes which client characteristics, as assessed in the first psycho-social counselling session, were associated with requiring relatively more psycho-social support (≥3 sessions) in the process of predictive testing for cancer. The study population consisted of 244 counselees for hereditary cancer. Data were derived from an electronic data-base, used by psycho-social workers for the systematic registration of relevant details of each counselling session. Data were analysed for two respective groups: (A) patients who had a known mutation in the family and (B) patients with an as yet unknown mutation in the family. Results show that two or more psychosocial sessions were given if the information derived from the first session indicated the client to have childhood experiences with cancer (in group A), to experience the family role and/or the psychological impact as burdensome (in both groups) or to experience the social impact as burdensome (in group B). We conclude that the first assessment by a psychosocial worker already provides valuable information on the psychological support needs of patients. These findings provide insight into possible problem areas for clients dealing with predictive genetic testing.     

What Facilitates or Impedes Family Communication Following Genetic Testing for Cancer Risk? A Systematic Review and Meta-Synthesis of Primary Qualitative Research

To systematically review and meta-synthesise primary qualitative research findings regarding family communication following genetic testing of cancer risk, in order to inform development of effective interventions. Systematic searches of CINAHL, Embase, Medline, British Nursing Index and PsycINFO databases were undertaken and relevant studies identified using strict criteria. The selected primary qualitative studies were appraised for quality and relevance by three independent researchers and then synthesized using a “Framework” approach. Fourteen (4.3%) studies met the inclusion criteria. The following factors influenced family communication following genetic testing for late-onset hereditary cancer: the informant’s feelings about informing relatives about genetic testing; the perceived relevance of the information to other family members and their anticipated reactions; the “closeness” of relationships within the family; family rules and patterns (e.g., who is best placed to share information with whom); finding the right time and level of disclosure; and the supportive role of heath care professionals. The themes identified in this review could provide practitioners with a useful framework for discussing family communication with those undergoing genetic testing. This framework focuses on helping health care professionals to facilitate family communication. The next step will be the development of an intervention to directly support people in talking to their relatives.