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.     

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.     

Genetic Counseling and the Ethical Issues Around Direct to Consumer Genetic Testing

Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.     

Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer

The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10–20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors that can predict which counselees are most likely to develop psychological problems after presymptomatic genetic testing. Counselees with a 50 % risk of BRCA1/2 or Lynch syndrome completed questionnaires at three time-points: after receiving a written invitation for a genetic counseling intake (T1), 2–3 days after receiving their DNA test result (T2), and 4–6 weeks later (T3). The psychological impact of the genetic test result was examined shortly and 4–6 weeks after learning their test result. Subsequently, the influence of various potentially prognostic factors on psychological impact were examined in the whole group. Data from 165 counselees were analyzed. Counselees with an unfavorable outcome did not have more emotional distress, but showed significantly more cancer worries 4–6 weeks after learning their test result. Prognostic factors for cancer worries after genetic testing were pre-existing cancer worries, being single, a high risk perception of getting cancer, and an unfavorable test result. Emotional distress was best predicted by pre-existing cancer worries and pre-existing emotional distress. The psychological impact of an unfavorable genetic test result appears considerable if it is measured as “worries about cancer.” Genetic counselors should provide additional guidance to counselees with many cancer worries, emotional distress, a high risk perception or a weak social network.     

BRCA1 testing and informed consent in a woman with mild retardation

Cancer predisposition testing can pose complex genetic counseling issues. This casereport discusses whether it is appropriate to provide BRCA1 testing to a woman withlimited intellectual capacity and documented psychological distress. This case is one ofseveral cancer counseling cases presented to our Genetic Counseling Supervision Groupover the past three and a half years. The Supervision Group provided valuable feedback and supportto proceed with this challenging case.     

Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.     

Client Advocacy and Collaboration with Insurance and Laboratory Testing Agencies: A Case Study Illustrating Genetic Counselor Roles

Genetic counseling and the many roles a genetic counselor must assume to provide quality genetic health care are becoming increasingly complex, especially when the genetic condition is rare, and DNA testing is costly and not yet routinely used. A case study of a couple with a family history of retinoblastoma and their pursuit of DNA testing for prenatal diagnosis is presented. The case study illustrates the instrumental role of the genetic counselor in advocating for clients for genetic services such as DNA testing and in educating insurance companies in the nature and importance of such services to achieve improved client health care outcomes.     

Health Behaviors and Psychological Distress in Women Initiating BRCA1/2 Genetic Testing: Comparison with Control Population

The study objective was to compare breast cancer screening practices, lifestyle behaviors and psychological distress among 640 women initiating BRCA1/2 testing to those among 9,498 similarly-aged women from the general population. Health behaviors and psychological distress were reported in a self-administered questionnaire at pre-test genetic counseling. Regression analyses indicate that high-risk women were more frequently performing breast cancer screening and, in the case of those previously diagnosed with cancer, were more likely to be non-smokers and physically active than women from general population. However, women initiating BRCA1/2 testing were significantly more distressed than controls. Globally, high-risk women seemed to be well informed about recommendations for women who are at high risk and to have access to screening adapted to their risk level. Given their significant psychological distress, providing minimal psychosocial support to all women undergoing BRCA1/2 testing at pre-test genetic counseling is relevant.     

Who Is at Risk for Psychological Distress in Genetic Testing Programs for Hereditary Cancer Disorders?

Presymptomatic identification of disease gene carriers is becoming an increasingly common part of the clinical management of hereditary cancer disorders. With an expected increase in the number of requests for DNA testing and the limited resources for counseling, the amount of time genetic counselors are able to spend with test candidates will decrease. It is therefore important for counselors to identify persons at risk for psychological distress. Based on a review of experiences with Huntington disease and cancer patients, we describe factors likely to evoke distress in genetic cancer candidates. We also discuss the sometimes widely different ways that test candidates and their partners respond to genetic testing. By exploring risk factors for distress in relevant domains of the research, we can offer counselors guidelines for determining who may need extra counseling.     

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.     

Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counseling and testing for breast and ovarian cancer risk.

Using the monitoring process model (MPM), the authors examined the immediate effects of coping style and test results on the psychological distress of women at increased risk for breast and/or ovarian cancers. Cases selected for analysis were 107 probands and relatives of positive probands participating in genetic counseling and testing for heritable cancer risk. Specifically, the authors explored the relationships among coping style (high and low monitoring), test results (BRCA1 and BRCA2 mutation carrier and noncarrier status), and psychological distress (state anxiety). Consistent with the MPM, higher monitoring was associated with greater psychological distress while anticipating genetic test results. After test results were disclosed, greater distress was associated with testing positive for a mutation. The implications of the findings for breast and ovarian cancer patients are discussed.     

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.     

High Satisfaction and Low Distress in Breast Cancer Patients One Year after <Emphasis Type="Italic">BRCA</Emphasis>-Mutation Testing without Prior Face-to-Face Genetic Counseling

According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p?=?0.01) and BC-specific distress (IES-bc, p?=?0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing.     

Differential outcomes of skill training,group counseling,and individual cognitive therapy for persons with acquired visual impairment

As part of the Living Skills Training Program, group counseling and individual cognitive therapy were implemented to decrease psychological distress for adults with acquired visual impairment. This quasi‐experimental design study compared the outcomes of a 6‐month skill training program combined with a group counseling program (n = 37), with (n = 9) or without (n = 10) individual cognitive therapy, and with a control group (n = 42). The outcome measures were the Profile of Mood States and the Nottingham Adjustment Scale Japanese Version. The results showed that participants with low psychological distress decreased anxiety and increased acceptance of disability, even when they did not participate in group counseling. However, among the participants with high distress, they did not show any improvement without group counseling or individual therapy. The participants with high distress who engaged in group counseling showed an improving trend in attitudes toward others. Moreover, the participants who chose to engage in individual therapy in addition to group counseling showed decreased tension‐anxiety, depression, and fatigue, and significantly improved acceptance of disability. These results suggest that group counseling, combined with individual cognitive therapy, can be an effective part of rehabilitation treatment for clients who have high psychological distress.     

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.     

Counseling Adolescents and the Challenges for Genetic Counselors

Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them to adjust to genetic risk information. However, counseling techniques that are used with adults may not be always be suited to the adolescent population. Adolescence is a time of development during which separation from the family and formation of identity is achieved. The process of this development may impact the genetic counseling relationship. Family relationships may have a strong influence on the client's decision to have genetic testing. Additionally, it may be difficult to engage the client as adolescents may not have the ability to think abstractly and consider the short and long term consequences of genetic testing. It is helpful therefore to discuss the counseling process and techniques that may be useful when counseling these clients. This paper presents two case studies that illustrate some of the difficulties that may occur when counseling adolescents for genetic testing. The authors' have reflected on their clinical experience with these clients and this is presented here to add to the growing literature on this subject.     

Evaluating Genetic Counseling: Client Expectations,Psychological Adjustment and Satisfaction with Service

Periodic evaluations of genetic counseling services are useful for determining the effectiveness of counseling in meetings its psycho-educational aims, as well as identifying where improvements to the service may be made. This study aimed to evaluate the genetic counseling services provided by Genetic Services of Western Australia (GSWA) to determine the impact of counseling on client expectations, satisfaction with the service, and psychological adjustment, defined as wellbeing and perceived personal control (PPC). A total of 122 clients participated in a self-administered survey conducted pre- and post-counseling. Client expectations of the service as a means of providing information were met, and opportunities for counselors to meet client’s expectations of psychological support were identified. Furthermore, counseling was found to maintain and enhance psychological wellbeing of clients. The role of counseling in facilitating the development of PPC was a key contributor to a high sense of satisfaction in clients.     

Impact of Panel Gene Testing for Hereditary Breast and Ovarian Cancer on Patients

Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select.     

Incorporating a Psychological Counselor in a Cancer Risk Assessment Program: Necessity, Acceptability, and Potential Roles

Evidence suggests that cancer risk assessment may be associated with increased psychological distress. This exploratory study assessed the necessity and acceptability of incorporating psychological counseling into routine clinic procedures at a cancer risk program. Following a visit to a university-based cancer risk clinic, patients (N = 102) completed an anonymous self-report instrument. Participants reported experiencing current stress and anxiety (41%), depression (29%), and suicidal ideation (2%). Patients with a history of cancer were more likely to be experiencing current emotional difficulties. Sixty-nine percent of the participants found the visit with the psychological counselor to be helpful, while 41% of the participants reported interest in follow-up psychological services. Interest in receiving future psychological services was positively correlated with levels of anxiety, depression, and cancer worry. This pilot study demonstrates the acceptability and potential role for psychological counselors in increasing adjustment in high-risk patients undergoing genetic counseling for inherited cancers.     

Awareness and Preferences Regarding <Emphasis Type="Italic">BRCA1/2</Emphasis> Genetic Counseling and Testing Among Latinas and Non-Latina White Women at Increased Risk for Hereditary Breast and Ovarian Cancer

This study was an investigation of awareness, cognitions, and psychosocial and educational needs related to genetic counseling and testing among Latinas and non-Latina whites at increased risk for having a BRCA1/2 mutation. Sixty-three Latina and eighty-four non-Latina white women completed telephone surveys employing a mixture of quantitative and qualitative questions assessing awareness, benefits, risks, barriers, and genetic counseling communication preferences regarding BRCA1/2 testing. Among participants who had not previously had genetic counseling/testing, 56.9% of Latinas (29/51) and 34.8% of non-Latina white participants (24/69) were unaware of the availability of BRCA1/2 testing. In multivariate logistic regression analysis, Latina ethnicity was the only statistically significant independent factor associated with lack of awareness (OR = 0.42; 95% CI = 0.19–0.35). No appreciable differences were noted between ethnic groups regarding perceived benefits of BRCA1/2 testing or desired genetic counseling topics. These findings underscore the importance of increasing awareness of cancer genetic counseling and genetic testing among both Latina and non-Latina white populations.