From genetic counseling to “genomic counseling”
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing, informed consent, and psychosocial assessment and support (National Society of Genetic Counselors' Definition Task Force et al. 2006). While genetic counseling falls within the scope of many health care professionals, clinical geneticists (physicians) and masters level genetic counselors have been working in the United States for more than 40 years, providing genetic counseling primarily for single-gene conditions. Debate about what “genomic counseling” will include and who will practice it has been fueled by the transition from single-gene focused genetic counseling and testing to a full genomic medicine approach. The routine incorporation of genomic medicine will likely induce differences in the scope, approach and process of genetic counseling (Table (Table1).1). In this commentary, I will discuss the several areas where practice will likely change as we move toward “genomic” counseling, with a focus on the unique skills and roles that genetic counselors and clinical geneticists provide. Table 1 Changes that will impact the transition to “genomic counseling.”
- Research Article
2
- 10.1089/gtmb.2020.29058.sjt
- Oct 14, 2020
- Genetic testing and molecular biomarkers
Please Wait for the Host to Start This Meeting: A Push for H.R. 3235 Amid COVID-19.
- Research Article
2
- 10.1007/s10897-011-9467-5
- Jan 20, 2012
- Journal of Genetic Counseling
National Society of Genetic Counselors Natalie Weissburger Paul Lifetime Achievement Award Address: <b><i>The Power of Connecting</i></b>
- Research Article
6
- 10.1377/hlthaff.2018.0364
- May 1, 2018
- Health Affairs
With the market for direct-to-consumer genetic testing expanding rapidly, clinicians are playing catch-up.
- Research Article
51
- 10.1176/ps.2007.58.2.254
- Feb 1, 2007
- Psychiatric Services
Genetic counseling is an important clinical service that is routinely offered to families affected by genetic disorders or by complex disorders for which genetic testing is available. It is not yet routinely offered to individuals with serious mental illnesses and their families, but recent findings that beliefs about the cause of mental illness can affect an individual's adaptation to the illness suggest that genetic counseling may be a useful intervention for this population. In a genetic counseling session the counselor discusses genetic and environmental contributors to disease pathogenesis; helps individuals explore conceptions, fears, and adaptive strategies; and provides nondirective support for decision making. Expected outcomes may include reductions in fear, stigma, and guilt associated with a psychiatric diagnosis; improvements in adherence to prescribed medications; declines in risk behaviors; and reductions in misconceptions about the illness. The authors endorse a multidisciplinary approach in which a psychiatrist and genetic counselor collaborate to provide comprehensive psychiatric genetic counseling.
- Research Article
- 10.21693/1933-088x-20.5.164
- Dec 1, 2021
- Advances in Pulmonary Hypertension
PH Professional Network: Genetic Counseling and Pulmonary Arterial Hypertension
- Research Article
- 10.1044/leader.ftr4.17112012.5
- Sep 1, 2012
- The ASHA Leader
Talking to Parents About Genetics
- Research Article
1
- 10.1002/ajmg.a.37357
- Sep 10, 2015
- American journal of medical genetics. Part A
American society of human genetics updates guidance on genetic testing in children: Group addresses predictive genetic testing, use of secondary findings from genomic sequencing tests.
- Abstract
- 10.1016/j.gim.2022.01.333
- Mar 1, 2022
- Genetics in Medicine
eP297: Overview of pediatric genetic counseling clinic models and genetic counselors' perceptions of them
- Abstract
- 10.1016/s0090-8258(22)01821-2
- Aug 1, 2022
- Gynecologic Oncology
Disparities in completion of genetic testing and counseling for Lynch syndrome in high-risk patients diagnosed with endometrial cancer (601)
- Research Article
20
- 10.1161/01.cir.0000097493.70422.50
- Oct 28, 2003
- Circulation
Cardiology patient page. Familial dilated cardiomyopathy.
- Supplementary Content
1
- 10.1002/jgc4.1993
- Nov 1, 2024
- Journal of Genetic Counseling
Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death. Genetic testing for HCM is increasingly available due to advances in DNA sequencing technologies and reduced costs. While a diagnosis of HCM is a well‐supported indication for genetic testing and genetic counseling, incorporation of genetic services into the clinical setting is often limited outside of expert centers. As genetic counseling and testing have become more accessible and convenient, optimal integration of genomic data into the clinical care of individuals with HCM should be instituted, including delivery via genetic counseling. Drawing on recommendations from recent disease guidelines and systematic evidence reviews, we highlight key recommendations for HCM genetic testing and counseling. This practice resource provides a comprehensive framework to guide healthcare providers in the process of genetic test selection, variant classification, and cascade testing for genetic evaluation of HCM.
- Abstract
- 10.1016/j.euroneuro.2016.09.397
- Jan 1, 2017
- European Neuropsychopharmacology
M6 - Presymptomatic Genetic Counseling In Frontotemporal Dementia/Amyotrophic Lateral Sclerosis: A Potential Model For Genetic Testing In Neurodegenerative Disorders
- Research Article
41
- 10.1016/s1542-3565(05)00370-8
- Jul 1, 2005
- Clinical Gastroenterology and Hepatology
Inherited Polyposis Syndromes: Molecular Mechanisms, Clinicopathology, and Genetic Testing
- Research Article
16
- 10.1038/gim.2017.240
- Oct 1, 2018
- Genetics in Medicine
Making pretest genomic counseling optional: lessons from the RAVE study
- Research Article
310
- 10.1007/s10897-011-9462-x
- Dec 2, 2011
- Journal of Genetic Counseling
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.
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