| What is a genetic consultation? |
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A genetic consultation is a health service that provides
information and support to people who have, or may be at risk for, genetic
disorders. During a consultation, a genetics professional meets with an
individual or family to discuss genetic risks or to diagnose, confirm, or
rule out a genetic condition. Genetics professionals include medical geneticists (doctors who specialize in genetics) and genetic counselors (certified healthcare workers with experience in medical genetics and counseling). Other healthcare professionals such as nurses, psychologists, and social workers trained in genetics can also provide genetic consultations. Where Can You Get a Genetics Consultation? Clinical genetic services may be located in a hospital or medical center or in a private office. Usually, genetic services are provided through a perinatology or genetics clinic which may be specialized by age group (e.g., prenatal, pediatric, adult) or by medical condition (e.g., cancer genetics). What Happens at a Genetic Counseling Appointment? Genetic counselors will help: -Assess the risk of a genetic disorder by researching a family's history and evaluating medical records. -Weigh the medical, social and ethical decisions surrounding genetic testing. -Provide support and information to help a person make a decision about testing. -Interpret the results of genetic tests and medical data. -Provide counseling or refer individuals and families to support services. -Serve as patient advocates. -Explain possible treatments or preventive measures. -Discuss reproductive options. Who Should Have a Genetics Consultation? Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation. Following are the most common reasons for a genetics consultation: preconception/prenatal genetics consultation: - Abnormal results from a triple marker screen or fetal ultrasound - Close biological relationship of parents - Ethnic predisposition to certain genetic disorders - Exposure to a known or suspected teratogen - A mother who has a medical condition known or suspected to affect fetal development - A mother who will be 35 years or older at delivery - Personal or family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality - Two or more pregnancy miscarriages pediatric genetics consultation: - Abnormal newborn screening results - Abnormalities in growth - Blindness or deafness - Family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality - Developmental delay or Mental retardation - One or more major malformations in any organ system - Presence of a known or suspected genetic disorder or chromosomal abnormality Adolescent/adult genetics consultation: - Blindness or deafness - Development of a degenerative disease - Mental retardation - Personal or family history of a known or suspected genetic condition or chromosomal abnormality - Personal or family history of hereditary cancers - Risk assessment for pregnancy planning |
