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Cold Spring Harbor Perspectives in... Mar 2020Genetic 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... (Review)
Review
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 -
European Journal of Human Genetics :... Feb 2019The 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... (Review)
Review
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 -
Genes Dec 2020Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have... (Review)
Review
Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.
Topics: Abortion, Spontaneous; Aneuploidy; Cell-Free Nucleic Acids; Genetic Counseling; Humans; Noninvasive Prenatal Testing
PubMed: 33374411
DOI: 10.3390/genes12010015 -
British Medical Bulletin Jun 2018Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and... (Review)
Review
BACKGROUND
Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine.
SOURCES OF DATA
Original papers, reviews, guidelines, policy papers and web-resources.
AREAS OF AGREEMENT
An international consensus on the definition of genetic counselling. Genetic counselling is necessary for implementation of genomic medicine.
AREAS OF CONTROVERSY
Models of genetic counselling.
GROWING POINTS
Genomic medicine is a growing and strategic priority for many health care systems. Genetic counselling is part of this.
AREAS TIMELY FOR DEVELOPING RESEARCH
An evidence base is necessary, incorporating implementation and outcome research, to enable health care systems, practitioners, patients and families to maximize the utility (medically and psychologically) of the new genomic possibilities.
Topics: Biomedical Research; Decision Making; Genetic Counseling; Genetic Diseases, Inborn; Genetic Testing; Humans; Patient Education as Topic
PubMed: 29617718
DOI: 10.1093/bmb/ldy008 -
Journal of Genetic Counseling Oct 2020The 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,...
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 -
Cold Spring Harbor Perspectives in... Nov 2020Despite 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... (Review)
Review
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 -
Cold Spring Harbor Perspectives in... Dec 2020Most psychiatric disorders of pediatric and adult onset are caused by a complex interplay of genetic and environmental risk factors. Risk assessment in genetic... (Review)
Review
Most psychiatric disorders of pediatric and adult onset are caused by a complex interplay of genetic and environmental risk factors. Risk assessment in genetic counseling is correspondingly complicated. Outside of neurodevelopmental conditions, genetic and genomic testing has not achieved clinical utility. Genetic counselors most often base risk assessment on the client's medical and family history and empiric recurrence risk data. In rare cases significant familial risk may arise from variants of large effect. New approaches such as polygenic risk scores have the potential to inform diagnosis and management of affected individuals and risk status for at-risk individuals. Research on the genetic and environmental factors that increase risk for schizophrenia and etiologically related disorders are reviewed, guidance in determining and communicating risks to families is delivered, and new opportunities and challenges that will come with translating new research findings to psychiatric risk assessment and genetic counseling are anticipated.
Topics: Genetic Counseling; Genetic Predisposition to Disease; Genetic Testing; Humans; Mental Disorders; Psychiatry; Risk Assessment
PubMed: 31570376
DOI: 10.1101/cshperspect.a036616 -
Military Medicine Dec 2021Genetic counseling for military beneficiaries poses unique challenges and counseling opportunities. In order to fully meet the needs of this population, genetic... (Review)
Review
Genetic counseling for military beneficiaries poses unique challenges and counseling opportunities. In order to fully meet the needs of this population, genetic counseling involves critical ethical and psychosocial considerations. This article reviews some elements of genetic counseling that must be considered when working with beneficiaries in the military health system.
Topics: Counseling; Genetic Counseling; Humans; Military Personnel
PubMed: 34967403
DOI: 10.1093/milmed/usab007 -
Cold Spring Harbor Perspectives in... Nov 2020Humanism 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... (Review)
Review
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 -
Seminars in Perinatology Feb 2016Genetic carrier screening, prenatal screening for aneuploidy, and prenatal diagnostic testing have expanded dramatically over the past 2 decades. Driven in part by... (Review)
Review
Genetic carrier screening, prenatal screening for aneuploidy, and prenatal diagnostic testing have expanded dramatically over the past 2 decades. Driven in part by powerful market forces, new complex testing modalities have become available after limited clinical research. The responsibility for offering these tests lies primarily on the obstetrical care provider and has become more burdensome as the number of testing options expands. Genetic testing in pregnancy is optional, and decisions about undergoing tests, as well as follow-up testing, should be informed and based on individual patients' values and needs. Careful pre- and post-test counseling is central to supporting informed decision-making. This article explores three areas of technical expansion in genetic testing: expanded carrier screening, non-invasive prenatal screening for fetal aneuploidies using cell-free DNA, and diagnostic testing using fetal chromosomal microarray testing, and provides insights aimed at enabling the obstetrical practitioner to better support patients considering these tests.
Topics: Aneuploidy; Chromosome Disorders; DNA; Female; Fetus; Genetic Counseling; Genetic Diseases, Inborn; Genetic Testing; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 26718445
DOI: 10.1053/j.semperi.2015.11.007