Genetic counseling is defined by the National Society of Genetic Counselors (NSGC) as the process of “helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.” This process includes interpretation of family and medical histories to assess the chance of occurrence or recurrence of a disorder, education about inheritance, and providing information on testing, management, prevention, resources, research, and counseling to promote informed choices and adaptation to the risk or condition (NSGC 2005).
In the U.S., genetic counselors are usually masters level medical professionals who have a background in both clinical genetics and psychosocial counseling. Genetic counselors are able to translate complex medical and genetic information and address the emotional and psychosocial issues facing newly diagnosed families. Genetic counselors are trained to assess and assist families coping with a genetic disorder and sharing that information with extended family members. In addition, genetic counselors make referrals to medical and mental health specialists to ensure comprehensive care for individuals and families living with genetic conditions.
Genetic counselors typically work as part of health care teams in a variety of settings. Many genetic counselors partner with medical geneticists, perinatologists, obstetricians, oncologists, and other clinical specialists. Others work in clinical laboratories and research settings, or they may work independently in private practice.
Genetic counseling for fragile X disorders (FXD) is particularly complex due to the multigenerational nature of FMR1mutations and the variable implications for extended family members, including those who carry a pre- or full mutation. Genetic counseling for FXD is also complicated by the variable clinical presentations associated with pre- and full mutations, and the resulting implications for family members. For these reasons, the genetic counseling process is a complex one and should be facilitated by a board certified genetic counselor.
Genetic counseling sessions typically include obtaining and analyzing a detailed multigenerational family history, called a pedigree, in order to determine how a gene has been passed down in a family. The pedigree allows the counselor to assess the risk for FXD in individuals as well as extended family members.
Often the first identified family member with an FMR1 mutation is an individual with fragile X syndrome (FXS). Subsequently, additional family members may be identified who could also be FMR1 mutation carriers and possibly at risk for fragile X-associated tremor ataxia syndrome (FXTAS) or fragile X-associated primary ovarian insufficiency (FXPOI), as well as other health implications associated with being an FMR1 carrier. While less common, an individual with FXTAS or FXPOI may be the first identified family member with an FMR1 mutation and may have no known history of intellectual disabilities, autism, or other learning disabilities in the family. Increasingly, FMR1 testing is being offered as a “routine” carrier screening option to pregnant couples and those planning a pregnancy, even when there are no obvious indications in the family history.
In taking a detailed family history, the genetic counselor should inquire about:
- Any individual, male or female, with intellectual, behavioral, and/or learning disabilities, autism spectrum disorder, attention deficit/hyperactivity disorder (ADHD), anxiety, or mental health issues.
- Any female with primary ovarian insufficiency, infertility, or irregular menses.
- Any adult with Parkinson’s disease, tremors or other movement disorders, ataxia, cognitive or psychiatric changes, or dementia.
The genetic counseling session should include a detailed discussion of the inheritance pattern of FXD, the clinical presentations of all three conditions (FXS, FXPOI, FXTAS), reproductive options when appropriate, guidance regarding talking to children and extended at-risk family members, considerations for testing asymptomatic children, research opportunities, family support, and referrals for medical, developmental and psychological providers as indicated.
To assist with the genetic counseling session, the National Society of Genetic Counselors (NSGC) has published practice guidelines for counseling individuals and families with FMR1mutations. The NSGC also hosts a Find a Genetic Counselor tool that allows users to find certified genetic counselors by location.