Review

Authors: MaryAnn Abacan, Lamia Alsubaie, Kristine Barlow-Stewart...

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

Topics: Congresses as Topic; Counselors; Employment; Genetic Counseling; Humans; Societies, Medical

PubMed: 30291341
DOI: 10.1038/s41431-018-0252-x

Authors: Leila Jamal, Will Schupmann, Benjamin E Berkman...

The field of genetic counseling has grown and diversified since the profession emerged in the early 1970s. In the same period, genomic testing has become more complex, profitable, and widespread. With these developments, the scope of ethical considerations relevant to genetic counseling has expanded. In light of this, we find it helpful to revisit how ethical and relational variables are used to inform genetic counseling practice. Our specific focus is on whether, and to what extent, it is ethically acceptable for genetic counselors to make normative recommendations to patients. This article builds on prior literature that has critiqued nondirectiveness, a concept that has influenced and constrained the modern profession of genetic counseling since its origin. In it, we review scholarly efforts to move beyond nondirectiveness, which we believe privilege patient autonomy at the expense of other important values. We then argue that genetic counselors should favor a more explicit commitment to the principles of beneficence and non-maleficence, as well as a broader understanding of autonomy and the relational variables that impact genetic counseling. Finally, to translate our arguments into practice, we present a framework of six considerations that genetic counselors should take into account when deciding whether it is ethically acceptable, or even desirable, to make recommendations to patients in certain areas of their work.

Topics: Counselors; Ethics, Professional; Genetic Counseling; Genome, Human; Humans

PubMed: 31856388
DOI: 10.1002/jgc4.1207

Review

Authors: Debra Lilienthal, Michelle Cahr

Despite the ever-increasing number of patients undergoing fertility treatments and the expanded use of genetic testing in this context, there has been limited focus in the literature on the involvement of genetics professionals in the assisted reproductive technology (ART) setting. Here we discuss the importance of genetic counseling within reproductive medicine. We review how genetic testing of embryos is performed, the process of gamete donation, the challenges associated with genetic testing, and the complexities of genetic test result interpretation.

Topics: Female; Genetic Counseling; Genetic Testing; Humans; Infertility, Female; Infertility, Male; Male; Reproductive Medicine; Reproductive Techniques, Assisted

PubMed: 31570374
DOI: 10.1101/cshperspect.a036566

Authors: Nicola V Taverner, Angela M Trepanier, Beverly M Yashar...

Topics: Humans; Genetic Counseling; Educational Status

PubMed: 38053492
DOI: 10.1002/jgc4.1840

Authors: Anna Middleton, Álvaro Mendes, Caroline M Benjamin...

Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to 'research' results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being 'direct-to-consumer' much of this testing bypasses traditional healthcare systems. We argue that direct-to-consumer genetic testing companies should make genetic counseling available, pre- as well as post-test. While we do not advocate that mandatory genetic counseling should gate-keep access to direct-to-consumer genetic testing, if the testing process has the potential to cause psychological distress, then companies have a responsibility to provide support and should not rely on traditional healthcare systems to pick up the pieces. A video abstract is available for this article via this link .

Topics: Direct-To-Consumer Screening and Testing; Genetic Counseling; Genetic Testing; Humans; Precision Medicine

PubMed: 29767582
DOI: 10.2217/pme-2017-0001

Review

Authors: Barbara Biesecker

Genetic counseling is a profession growing and evolving at an extraordinary rate. This growth is driven by an explosion in what we know, as a result of progress in science, technology, and bioinformatics, and an explosion in what we do not know, as we strive to understand the impact of genomic information on the lives of our patients and clients. Genetic counselors work in an increasing number of subspecialties and diversity of settings. But although the field has evolved, it has maintained a remarkably unchanged core of shared values and beliefs. The heart of genetic counseling practice is the therapeutic relationship, with its dual role of providing information and facilitating assimilation of that information to personalize health-related decision-making and foster successful adaptation. Genetic counseling aims to communicate cutting-edge genomic science within an empathic understanding of the client/patient's concerns and needs. In pursuit of these goals, further assessment of genetic counseling's effectiveness is needed to facilitate evidence-based practices and to scale counseling resources.

Topics: Counselors; Genetic Counseling; Humans; Models, Theoretical; Outcome Assessment, Health Care; Professional-Patient Relations

PubMed: 31570379
DOI: 10.1101/cshperspect.a038968

Review

Authors: Shaza D Malik, Mashael Al-Shafai, Atiyeh M Abdallah...

Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized by high rates of consanguinity. Nevertheless, little is known about the decisions faced by parents and the factors underlying the complex decision making that must occur when accessing these services in Arab countries. Herein, we performed a narrative review to discuss the reported experiences of parents accessing genetic counseling in the prenatal setting in the 22 Arab countries. We also highlight the different types of decisions encountered and the factors influencing them. We report that: (i) utilization of genetic counseling services varies across different Arab countries; (ii) many factors affect decision making and service utilization, especially religion; and (iii) parents are faced with an array of decisions in the prenatal setting, partly driven by increased utilization of prenatal diagnosis and preimplantation genetic testing in some countries. Our work is the first to highlight the different factors and decisions influencing genetic counseling in Arab countries. Understanding these factors is essential for improving genetic counseling services in the region and helping counselors facilitate informed decision making.

Topics: Arabs; Consanguinity; Female; Genetic Counseling; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis

PubMed: 35205212
DOI: 10.3390/genes13020167

Review

Authors: Jill S Goldman

Predictive genetic counseling for neurodegenerative diseases commenced with Huntington's disease (HD). Because the psychological issues and outcomes have been best studied in HD, the HD genetic counseling and testing protocol is still accepted as the gold standard for genetic counseling for these diseases. Yet, advances in genomic technology have produced an abundance of new information about the genetics of diseases such as Alzheimer's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Parkinson's disease. The resulting expansion of genetic tests together with the availability of direct-to-consumer testing and clinical trials for treatment of these diseases present new ethical and practical issues requiring modifications to the protocol for HD counseling and new demands on both physicians and genetic counselors. This work reviews the history of genetic counseling for neurodegenerative diseases, its current practice, and the future direction of genetic counseling for these conditions.

Topics: Alzheimer Disease; Amyotrophic Lateral Sclerosis; Frontotemporal Dementia; Genetic Counseling; Genetic Testing; Humans; Huntington Disease; Parkinson Disease

PubMed: 31548223
DOI: 10.1101/cshperspect.a036525

Review

Authors: Robert Resta

Humanism is a philosophy that emphasizes rational, scientific, and empiric analysis of the world we live in to improve the physical, social, and psychological life of humanity. Although individual genetic counselors may or may not identify as humanists, genetic counseling and genetic testing are primarily humanistic endeavors because they are situated in the context of humanistic medicine in the westernized world. Humanistic goals are also implicit and explicit in the profession and practice of genetic counselors. This review examines the relationship between humanism and genetic counseling, highlighting situations in which the two may be discordant, and suggests ways that genetic counselors can reconcile these discordances.

Topics: Genetic Counseling; Genetic Testing; Humanism; Humans

PubMed: 31548221
DOI: 10.1101/cshperspect.a036673

Authors: Rachel Horton, Gillian Crawford, Lindsey Freeman...

Topics: Access to Information; Attitude to Health; Direct-To-Consumer Screening and Testing; Genetic Counseling; Health Literacy; Humans; Information Seeking Behavior; Physician's Role; Predictive Value of Tests; Social Perception

PubMed: 31619392
DOI: 10.1136/bmj.l5688