The Interface Between the Practice of Medical Genetics and Human Genetic Research: What Every Genetic Counselor Needs to Know

Genetic counselors have historically used human genetic research as an advanced information resource for their patients. Most commonly, this has been via access to information provided by gene identification studies in advance of commercial testing. More recently genetic counselors have been participating in human genetic research studies as part of the investigative team. This review provides a framework to help genetic counselors in research and clinical practice understand the historical perspectives, ethical principles, and federal regulations that govern the current practice of human subject research. Special consideration is given to the IRB process and unique issues in human genetic research. This overview is intended to help improve the ability of genetic counselors to act as advocates for their patients.     

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.     

Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors

Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force’s development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.     

Use of Genetic Tests among Neurologists and Psychiatrists: Knowledge,Attitudes, Behaviors,and Needs for Training

This study explores neurologists’ and psychiatrists’ knowledge, attitudes, and practices concerning genetic tests. Psychiatrists (n?=?5,316) and neurologists (n?=?2,167) on the American Medical Association master list who had agreed to receive surveys were sent an email link to a survey about their attitudes and practices regarding genetic testing; 372 psychiatrists and 163 neurologists responded. A higher proportion of neurologists (74 %) than psychiatrists (14 %) who responded to the survey had ordered genetic testing in the past 6 months. Overall, most respondents thought that genetic tests should be performed more frequently, but almost half believed genetic tests could harm patients psychologically and considered legal protections inadequate. Almost half of neurologists (49 %) and over 75 % of psychiatrists did not have a genetics professional to whom to refer patients; those who had ordered genetic tests were more likely than those who did not do so to have access to a genetic counselor. Of respondents, 10 % had received patient requests not to document genetic information and 15 % had received inquiries about direct-to-consumer genetic testing. Neurologists reported themselves to be relatively more experienced and knowledgeable about genetics than psychiatrists. These data, the first to examine several important issues concerning knowledge, attitudes and behaviors of neurologists and psychiatrists regarding genetic tests, have important implications for future practice, research, and education.     

Aligning Policy to Promote Cascade Genetic Screening for Prevention and Early Diagnosis of Heritable Diseases

Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.     

Parental Attitudes,Beliefs, and Perceptions about Genetic Testing for FAP and Colorectal Cancer Surveillance in Minors

Familial adenomatous polyposis (FAP) is the second most common hereditary colorectal cancer syndrome and confers a nearly 100% lifetime risk of developing colorectal cancer. Understanding factors that facilitate and inhibit genetic testing and cancer surveillance in children who are members of families affected by FAP will better equip clinicians to clarify misunderstandings and facilitate appropriate care. The aims of this study were to examine parental attitudes and beliefs regarding endoscopic surveillance and genetic testing in minors at risk for developing FAP. This cross-sectional study includes analyses of qualitative and quantitative interview data collected from parents of children with or at risk for FAP. This report includes data from 28 parents with a total of 51 biological children between 10–17 years of age. The parents had a clinical and/or genetic diagnosis of FAP. Most commonly reported facilitators included provider recommendation (surveillance) and personalized medical management (genetic testing). Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic testing).     

Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.     

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.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.     

Risk-Reduction Surgery Decisions in High-Risk Women Seen for Genetic Counseling

Women at greatest risk for hereditary breast and ovarian cancer may consider prophylactic removal of breasts or ovaries as a risk-reduction measure. This report describes uptake of risk-reduction mastectomy (RRM), risk-reduction oophorectomy (RRO), and related factors in 62 high-risk women who received genetic counseling. Seven (11%) participants underwent RRM and 13 (21%) underwent RRO. Of these women, 37% did not have BRCA testing, suggesting other factors influence decisions to undergo surgery. Women who had indicated (pre-genetic counseling) their intent not to have surgery chose not to have surgery. Information received during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion of family cancer history. Reasons for indecision about risk-reduction surgery included genetic testing results, concerns about surgery, timing in life, and early menopause. The findings enhance our understanding of information that is helpful to women considering this surgery.     

Collaboration of Colorado Cancer Genetic Counselors to Integrate Next Generation Sequencing Panels into Clinical Practice

The recent introduction of clinically available next generation sequencing (NGS) cancer panels has presented new challenges for genetic counselors. Determining which patients are appropriate for NGS panel testing is complex. Due to the large number of genes included in the NGS panels, thorough and appropriate pre-test counseling and interpretation of NGS results can be a time-consuming and difficult process. Many of the genes associated with increased cancer risk lack published clinical management guidelines and estimates of cancer risk for individuals with deleterious mutations. In order to efficiently and effectively review the clinical utility of NGS panels, Colorado cancer genetic counselors formed a working group to gain a better understanding of the genes included in NGS cancer panels. This publication reports on the approach of this group, the process used to evaluate a selected NGS panel, future directions for this collaboration, and ideas for other genetic counselors to form similar groups to efficiently evaluate new technologies and improve practice.     

Design and Feasibility of an Intervention to Support Cancer Genetic Counselees in Informing their At-Risk Relatives

Cancer genetic counselees receive individualized information regarding heightened risks and medical recommendations which is also relevant for their at-risk relatives. Unfortunately, counselees often insufficiently inform these relatives. We designed an intervention aimed at improving counselees’ knowledge regarding which at-risk relatives to inform and what information to disclose, their motivation to disclose, and their self-efficacy. The intervention, offered by telephone by trained psychosocial workers, is based on the principles of Motivational Interviewing. Phase 1 of the intervention covers agenda setting, exploration, and evaluation, and phase 2 includes information provision, enhancing motivation and self-efficacy, and brainstorming for solutions to disseminate information within the family. Fidelity and acceptability of the intervention were assessed using recordings of intervention sessions and by counselee self-report. A total of 144 counselees participated. Psychosocial workers (n = 5) delivered the intervention largely as intended. Counselees highly appreciated the content of the intervention and the psychosocial workers who delivered the intervention. In the sessions, psychosocial workers provided additional and/or corrective information, and brainstorming for solutions was performed in 70 %. These results indicate that this intervention is feasible and warrants testing in clinical practice. For this, a randomized controlled trial is currently in progress to test the intervention’s efficacy.     

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.     

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors

Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client.     

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.     

Coping with Genetic Risk: Living with Huntington Disease (HD)

Rapid developments in genetics suggest that more and more people will be identified ‘at risk’ for common illnesses. Genetic discoveries have the potential to improve disease outcomes, but they also highlight gaps in our knowledge about patient-level factors such as how individuals respond to a genetic threat to their health and how they cope with that threat. There have been few empirical applications of psychological theories to understand genetic testing decisions and outcomes, although there have been calls for this approach. Drawing upon interviews with individuals at risk for (or with) Huntington disease (HD), this study adopts a stress and coping framework to explore how people cope with genetic illness in the family. Qualitative data analyses revealed that coping strategies were dynamic and varied but could be classified as 1) primary control coping, 2) secondary control coping and 3) social comparison strategies. Important distinctions were observed in coping strategies among those who had undergone genetic testing and received a test result, those who remained at risk, and those affected with HD, along with their caregivers. Implications for clinical practice and genetics health services are discussed.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.