Genomic counselling is a specialized branch of medicine aimed at helping individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genomic contribution to specific health conditions.
The suspicion of a genomic disorder in a newborn, a family history of cancers, a positive result from a prenatal genomic screen for Down syndrome, a child diagnosed with Autism— these are a few examples of scenarios that confront patients with complex information to be understood and assimilated, and with an array of conflicting emotions. These – as well as other- scenarios oftentimes require difficult decision-making that involve many technical, ethical and highly personal questions. Genomic counseling plays an invaluable role in this process by offering specialized services within a clinical setting.
Genomic Counselors help individuals address the scientific and emotional issues that arise in such situations and actively help them make informed decisions based on their own values and individual circumstances.
Interpretation of family and
medical histories to assess the chance of disease occurrence or recurrence
About the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research
Counselling to promote informed choices in view of risk
assessment, family goals, ethical and religious values
Support to encourage the best possible adjustment to the
disorder in an affected family member and/or to the risk of recurrence of that disorder
Genomic Counseling appointments are quite a bit different as compared to your typical doctor’s appointments. They typically last anywhere from 45 minutes to an hour, and are designed to be an opportunity to ask questions, raise any concerns/fears you may have, and learn more. You can get the most out of your genomic counseling appointment if you gather as much information as possible about your family history beforehand, if possible. Helpful information includes:
This includes doctors’ notes and
pathology reports. These are important in order to confirm a clinical diagnosis or rule out a
suspected diagnosis. Your medical records are extremely helpful in guiding genomic assessment and/or testing.
This includes each person’s current age or age at the time of diagnosis or death, and cause of death. This list should include blood relatives only (parents, siblings, children, aunts, uncles, nieces, nephews, grandparents, and cousins) on both sides of your family.
Make a note of any cancers, heart
disease, mental illness, known genomic
conditions, birth defects, mental retardation, infant/sudden deaths, any miscarriages or fertility issues. Don’t forget to complete a health history questionnaire before your appointment.