Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.     

Genomic Counseling: Next Generation Counseling

Personalized medicine continues to expand with the development and increasing use of genome-based testing. While these advances present new opportunities for diagnosis and risk assessment, they also present challenges to clinical delivery. Genetic counselors will play an important role in ushering in this new era of testing; however, it will warrant a shift from traditional genetic counseling to “genomic counseling.” This shift will be marked by a move from reactive genetic testing for diagnosis of primarily single-gene diseases to proactive genome-based testing for multiple complex diseases for the purpose of disease prevention. It will also require discussion of risk information for a number of diseases, some of which may have low relative risks or weak associations, and thus, may not substantially impact clinical care. Additionally, genomic counselors will expand their roles, particularly in the area of health promotion to reduce disease risk. This additional role will require a style of counseling that is more directive than traditional counseling and require greater knowledge about risk reducing behaviors and disease screening.     

Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA

Prenatal testing for Down Syndrome is a topic covered in every genetic counselor’s training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two English-speaking countries: the United Kingdom and the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients’ understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results.     

Bringing the Social into Genetics: The Psychosocial Genetics Risk Assessment and Management Framework (PG-RAM)

As increasing numbers of people are identified at risk for multi-factorial diseases, questions of how to assess, communicate and manage genetic risk will be critical from health services and policy perspectives. However, there is currently no evidence-based genetic risk assessment and management framework to assist policy makers, clinicians and other stakeholders. A comprehensive psychosocial framework for risk assessment and management has been developed in the context of security hazards or threats. In an adaptation of that model, we present the Psychosocial Genetics Risk Assessment and Management framework (PG-RAM). It offers principles to enhance the integration of evidence-based best practices into genetics health services, as well as to identify issues, knowledge and gaps. The framework identifies the core elements of the situation, effects, population and interventions, all spanning several phases of genetic disorders. The framework provides an excellent starting point for knowledge syntheses in the context of genetic risk and could serve as the conceptual basis for practical tool development to guide healthcare professionals and decision makers in preparing for and responding to the psychosocial aspects of genetic risk.     

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.     

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.     

The Impact of Test Outcome Certainty on Interest in Genetic Testing Among College Women

Osteoporosis and hemochromatosis are both late-onset preventable diseases, but future genetic tests for these conditions are likely to differ in their predictive abilities. To determine whether interest in a specific genetic test for hemochromatosis would be higher than interest in a theoretical test for osteoporosis susceptibility, undergraduate women at the University of Cincinnati (N = 181) were surveyed regarding their interest in genetic testing for these conditions. The clinical features of the diseases and the limits of a genetic test for each were described. Sixty-three percent of the total population was interested in genetic testing with a trend toward higher interest in the osteoporosis group. Disease familiarity, perceived disease severity, and perceived risk for disease appear to be more important predictors of genetic test acceptance than diagnostic specificity. Suggested implications for the development of population genetic screening tests are discussed.     

Prädiktiver Gentest für Chorea Huntington

The development of predictive tests for genetic diseases such as Huntington’s chorea, not only raises new ethical and psychosocial issues for people at risk for genetic diseases, but also poses a challenge for the professionals treating them. The number of patients facing these issues will grow considerably with future advances of the human genome project. While there is general agreement among geneticists and neurologists that concurrent psychosocial and psychotherapeutic counselling for patients considering getting tested should be a prerequisite for predictive test-ing, much less agreement exists in the field of psychotherapy on the form and content of psychotherapeutic counselling for patients with a genetic risk factor. By their very nature, hereditary genetic conditions are a family affair. Whatever the test result will be in the end, it will have repercussions on other family members. In conse-quence, this article argues in favor of a counselling approach that is family and re-source oriented. From their experience with a collaborative treatment project, the authors present the major topics which psychotherapists need to address when working with patients at risk.     

Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family

Carrier testing is widely available for multiple genetic conditions, and several professional organizations have created practice guidelines regarding appropriate clinical application and the testing of minors. Previous research has focused on carrier screening, predictive testing, and testing for X-linked conditions. However, family perspectives on carrier testing for X-linked lethal diseases have yet to be described. In this study, we explored communication within the family about carrier testing and the perspectives of mothers of sons with an X-linked lethal disease, Duchenne muscular dystrophy (DMD). Twenty-five mothers of sons with DMD participated in an anonymous online survey. Survey questions included multiple choice, Likert scale, and open ended, short answer questions. Analysis of the multiple choice and Likert scale questions revealed that most mothers preferred a gradual style of communication with their daughters regarding risk status. In addition, most participants reported having consulted with a genetic counselor and found it helpful. Comparisons between groups, analyzed using Fisher’s exact tests, found no differences in preferred style due to mother’s carrier status or having a daughter. Thematic analysis was conducted on responses to open ended questions. Themes identified included the impact of family implications, age and maturity, and a desire for autonomy regarding the decision to discuss and undergo carrier testing with at-risk daughters, particularly timing of these discussions. Implications for genetic counseling practice are discussed.     

Case Report: Direct Access Genetic Testing and A False-Positive Result For Long QT Syndrome

We report the case of a woman who pursued direct access genetic testing and then presented with concerns regarding a positive test result for Long-QT syndrome. Although the result ultimately proved to be a false positive, this case illustrates that costs associated with follow-up of direct access genetic testing results can be non-trivial for both the patient and for health care systems. Here we raise policy questions regarding the appropriate distribution of these costs. We also discuss the possibility that, when confronted by a direct access genetic test result that reports high risk for one or more actionable diseases, a family physician might feel compelled to act out of a desire to avoid liability, even when information regarding the accuracy and validity of the testing were not easily accessible. This case outlines lessons that can easily be translated into clinical practice, not only by genetic counselors, but also by family physicians, medical specialists and members of the public.     

Genetic Testing and Parkinson Disease: Assessment of Patient Knowledge,Attitudes, and Interest

The most common genetic contributor to late-onset Parkinson disease (PD) is the LRRK2 gene. In order to effectively integrate LRRK2 genetic testing into clinical practice, a strategy tailored to the PD population must be developed. We assessed 168 individuals with PD for baseline knowledge of genetics, perceived risk, and interest and opinions regarding genetic counseling and testing. Most participants felt that they were familiar with general genetics terms but overall knowledge levels were low, with an average score of 55%. The majority of participants thought it was likely they inherited a PD gene (72%), believed genetic testing for PD would be useful (86%), and were interested in genetic testing (59%) and genetic counseling (56%). However, only a few participants had heard of any genetic tests for PD (29%) or LRRK2 (10%). There appears to be a significant level of interest in genetics and genetic testing within the PD population, but a considerable deficit in genetics knowledge and an over-estimation of risk. Genetic education and counseling tools to address these needs were developed to provide patients with the ability to make informed and knowledgeable genetic testing decisions.     

Modern Advances in Genetic Testing: Ethical Challenges and Training Implications for Current and Future Psychologists

The ethical implications for psychological practice of genetic testing are largely unexplored. Predictive testing can have a significant impact on health and well-being, and increasing numbers of individuals with knowledge of their risk for various disorders are likely to present for psychotherapy. In addition, more people will struggle with the decision of whether to obtain information regarding their genetic material. Psychologists will need to have the appropriate knowledge and clinical skills to effectively counsel this population. This article highlights the relevant ethical issues surrounding psychological treatment of individuals pursuing or considering undergoing genetic testing. These issues are extended to psychologists working in research, education, and policy domains. Recommendations for graduate training programs to facilitate current and future practitioner competence are also discussed.     

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.     

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.     

Déclaration de l’ITC sur l’utilisation des tests et autres instruments de mesure à des fins de recherche scientifique

This document is intended to promote the belief that test use in research should abide by legal and ethical principles as well as best practice standards and that tests should be used by competent professionals who focus attention on the rights of test-takers and other parties involved in the testing process. Issues discussed in this document highlight these considerations.     

The Evolution of Cancer Risk Assessment in the Era of Next Generation Sequencing

Cancer genetics professionals face a new opportunity and challenge in adapting to the availability of cancer genetic testing panels, now available as a result of Next Generation Sequencing (NGS) technology. While cancer panels have been available for over a year, we believe that there is not yet enough data to create practice guidelines. Despite this, a year of experience allows us to provide our opinion on points to consider as cancer genetic counselors incorporate this testing technology into genetic counseling practice models. NGS technology offers the ability to potentially diagnose hereditary cancer syndromes more efficiently by testing many genes at once for a fraction of what it would cost to test each gene individually. However, there are limitations and additional risks to consider with these tests. Obtaining informed consent for concurrent testing of multiple genes requires that genetics professionals modify their discussions with patients regarding the potential cancer risks and the associated implications to medical management. We propose dividing the genes on each panel into categories that vary by degree of cancer risk (e.g. penetrance of the syndrome) and availability of management guidelines, with the aim to improve patient understanding of the range of information that can come from this testing. The increased risk for identifying variants of uncertain significance (VUS) when testing many genes at once must be discussed with patients. Pretest genetic counseling must also include the possibility to receive unexpected results as well as the potential to receive a result in the absence of related medical management guidelines. It is also important to consider whether a single gene test remains the best testing option for some patients. As panels expand, it is important that documentation reflects exactly which genes have been analyzed for each patient. While this technology holds the promise of more efficient diagnosis for many of our patients, it also comes with new challenges that we must recognize and address.     

Consumers’ Desire towards Current and Prospective Reproductive Genetic Testing

As our knowledge and abilities in molecular genetics continues to expand, so does our ability to detect certain conditions/traits prenatally; however, it is unknown if this increase in scientific ability will be utilized by the consumers of genetic services. Our study gauges the consumers’ opinion towards reproductive testing for diseases and enhancements. Prior to their initial visit with a genetic counselor, patients were asked to participate in a survey. These consumers were asked to indicate traits and conditions for which they would choose reproductive genetic testing. The majority of respondents would elect to have prenatal genetic testing for mental retardation (75%), deafness (54%), blindness (56%), heart disease (52%), and cancer (51%). Our results indicated that 49.3% would choose testing for a condition that resulted in death by 5 years of age, whereas only 41.1%, 24.9%, and 19% would choose testing for conditions that results in death by 20, 40, and 50 years of age, respectively. Most respondents did not desire testing for enhancements (e.g. 13% would choose testing for superior intelligence). Our study suggests that consumers desire more reproductive genetic testing than what is currently offered; however, their selection of tests suggests self-imposed limits on testing.     

The Disadvantaged and the Aptitude Barrier

The theory and practice of aptitude testing are critically discussed within the context of current efforts to improve the status of the poor. Aptitude testing is contrasted with achievement testing with special attention directed toward underlying assumptions, validation procedures, and the interpretation of test scores. Aptitude tests are found to have profoundly bad effects for disadvantaged applicants. The tests bar them from employment and destroy their aspirations in the process. Recommendation is made for a battery of pre-employment tests more closely related to achievement test principles. It is argued that such a battery would be more relevant and hope-redeeming for underprivileged applicants while preserving the advantages of pre-employment ability testing.