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Why might someone have a genetic consultation?
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Consult

Why might someone have a genetic consultation?

Individuals or families concerned about inherited conditions, pregnancy risks, or specific medical histories may benefit from a professional genetic consultation.

Common Reasons for Consultation

The reasons that a person might be referred to a genetic counselor, medical geneticist, or other genetics professional include:

  • A personal or family history of a genetic condition, birth defect, chromosomal disorder, or hereditary cancer.
  • Two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died.
  • A child with a known inherited disorder, a birth defect, intellectual disability, or developmental delay.
  • A woman who is pregnant or plans to become pregnant at or after age 35. (Some chromosomal disorders occur more frequently in children born to older women.)
  • Abnormal test results that suggest a genetic or chromosomal condition.
  • An increased risk of developing or passing on a particular genetic disorder on the basis of a person’s ethnic background.
  • People related by blood (for example, cousins) who plan to have children together. (A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.)
  • A person received results from direct-to-consumer genetic testing and they want to discuss the implications of the results.

The Role of Consultation

A genetic consultation is also an important part of the decision-making process for genetic testing. A visit with a genetics professional may be helpful even if testing is not available for a specific condition, however.

Frequently Asked Questions

The genetics team may recommend chromosomal microarray analysis of the products of conception, parental karyotyping, and possibly whole‑exome sequencing if a specific syndrome is suspected. These tests can identify balanced translocations, aneuploidies, or single‑gene mutations that explain recurrent loss and guide future pregnancy planning, including the use of IVF with pre‑implantation genetic testing if appropriate.
Cousin unions increase the chance that both partners carry the same recessive gene variant, raising the risk of autosomal recessive disorders (e.g., cystic fibrosis, spinal muscular atrophy). A genetic counselor can review your family trees, suggest carrier screening panels tailored to your ancestry, and explain options such as pre‑implantation genetic testing or prenatal diagnostic testing.
Start by gathering a three‑generation pedigree that includes any known birth defects, developmental delays, cancers, or diagnosed genetic conditions. If you identify two or more relatives with the same condition, an early‑onset cancer (e.g., before age 50), or a pattern of miscarriages, it’s a strong signal to schedule a genetics appointment.
Yes. A certified genetics professional will verify the result with a clinical laboratory, assess your personal and family cancer history, and discuss risk‑reduction strategies. If the mutation is confirmed, you’ll receive recommendations for enhanced breast/ovarian cancer screening, possible chemoprevention, and discussion of prophylactic surgery options, as well as cascade testing for at‑risk relatives.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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