Individuals and families who are concerned about a genetic disease may benefit from a genetic consultation whether or not testing is available for that condition. Many people are seeking information and coping strategies as much as test results.
Reasons for referral for a genetics consultation are often grouped by age: Preconception/Prenatal, Pediatric, and Adult. Common reasons for referral are given below, but these lists are not exhaustive.
Consult your local genetics clinic (see Genetic Services in Hawaii section) to determine whether a genetics referral is appropriate. The clinics have trained genetic practitioners which include: medical/clinical geneticists (medical doctors), genetic counselors, and nutritionists. Patients may be seen independently by a genetic counselor, but in cases where a diagnosis needs to be established, a medical geneticist must be directly involved.
Common reasons for a preconception/prenatal genetics consultation:
- Mother will be 35 years or older at delivery
- Abnormal results from a multiple marker screen or fetal ultrasound
- Personal or family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality
- Exposure to a known or suspected chemical/drug/environment that can cause a birth defect
- Mother has a medical condition known or suspected to affect fetal development
- Two or more pregnancy losses
- Close biological relationship of parents
- Ethnic predisposition to certain genetic disorders
Common reasons for a pediatric genetics consultation:
- Abnormal newborn screening results
- One or more major malformations in any organ system
- Abnormalities in growth
- Intellectual disability, developmental delay or autism
- Blindness or deafness
- Presence of a known or suspected genetic disorder or chromosomal abnormality
- Family history of a known or suspected genetic disorder, birth defect, or chromosomal abnormality
Common reasons for an adolescent/adult genetics consultation:
- Intellectual disability or autism
- Personal or family history of hereditary cancers
- Personal or family history of a known or suspected genetic condition or chromosomal abnormality
- Blindness or deafness
- Development of a degenerative disease
- Risk assessment for pregnancy planning
Modified from: GeneTests: Medical Genetics Information Resource (database online). Educational Materials: About Genetic Services. Copyright, University of Washington, Seattle. 1993-2006. Available at http://www.genetests.org. Accessed January 5, 2006.