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    Genetic Counseling

    Christine Hake, LGC, Tri-State Perinatology at The Women's Hospital 01/12/2021
    Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates: interpretation of family and medical histories to assess the chance of disease occurrence or recurrence; education about inheritance, testing, management, prevention, resources and research; and counseling to promote informed choices and adaptation to the risk or condition.

    Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines.  The majority of genetic counselors work in a traditional role as members of a healthcare team, counseling patients about genetic conditions, coordinating care, providing patient education and educating health professionals and the public about genetics.  However, with the many advances in the field of genetics, many genetic counselors work in other areas including; research, diagnostic laboratories, internet companies and websites, pharmaceutical industry, health consulting, public health and teaching at universities.

    The primary goal of genetic counselors working in a traditional setting is to provide information and act as an advocate to families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions. Genetic counseling can occur before conception (e.g if a couple is planning a pregnancy and is worried about the risk of a potentially heritable condition to a baby) through adulthood (for adult onset genetic conditions such as Huntington disease or a hereditary cancer syndrome). 

    A woman may be referred for genetic counseling if pregnant and undergoing prenatal testing or screening.  Genetic counselors educate the individual about her testing options and inform her of her results.  If a prenatal test is abnormal, the genetic counselor evaluates the risk, educates the patient about these risks and informs the patient of her options. A person may also undergo genetic counseling after the birth of a child with a genetic condition.  The genetic counselor explains the condition and evaluates the potential recurrence risk to future children.  The genetic counselor also provides supportive and ongoing counseling to families adjusting to a new diagnosis and acts as an advocate in referring individuals and families to the appropriate community and state support services. 

    Examples of individuals, couples and families who may benefit from genetic counseling include:
    • Persons or families with a history of common birth defects such as cleft lip or palate, congenital heart defects, spina bifida or other physical birth defects
    • Persons or families with genetic disorders such as Down syndrome, Huntington disease, cystic fibrosis, muscular dystrophy, PKU, hemophilia and other inherited disorders
    • Persons or families affected with learning disabilities/ intellectual disability, hearing or visual impairments, or other conditions that could be genetic
    • Persons or families with a history of certain cardiac, cancer, psychiatric or neurogenetic adult disorders
    • Persons with a history of multiple miscarriages, stillbirths or early infant deaths involving multiple congenital anomalies
    • Women age 34 and over who are pregnant or are planning pregnancy
    • Pregnant women at high risk due to an abnormal serum screening result for a possible chromosome abnormality, abnormal carrier screening test result, or abnormal ultrasound
    • Pregnant women concerned about the effects of exposure to medication, drugs, chemicals, infectious agents, radiation or certain work conditions.
    • Persons in specific ethnic groups or geographic areas with a higher incidence of certain disorders, such as Tay Sachs disease, sickle cell disease, or thalassemias.
    Please note this is not an exhaustive list, but is meant to act as a resource.  If you have any questions regarding concerns in your personal or family history or potential concerns to your baby during a pregnancy, a genetics counselor will likely be able to answer many of your questions.
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