A genetic consultation can offer information and support for those who have or are at risk to genetic disorder.
Genetic consultations are usually advised when there is a health concern relating to genetics. This includes people who have (or possibly have) genetic disorders, and those whose offspring may be at risk. A genetic consultation is an exchange of information whereby the client or clients can become informed about their choices.
Professionals Involved in Genetic Consultation
Genetic consultations are carried out by medical/health professionals with training in genetics. These are usually genetic counselors or clinical geneticists. Sometimes a team of healthcare workers, such as nurses and social workers, have roles in these services.
Where are Genetic Consultations Held?
There are dedicated genetics centers, though consultations are sometimes held in other environments, such as hospitals or private offices. These consultations are held in person, over the phone or both. There may be more than one visit or call arranged. In some cases, consultations involve several family members.
Reasons for Referrals for Genetic Consultation
There are many possible reasons for seeking information and support. Examples include:
- The person has, or is at risk to, a genetic disorder. For example, a person with a parent who has Huntington’s disease has a fifty percent chance of inheriting the disease.
- The person is pregnant or considering a pregnancy, and vulnerable to reproductive problems. For example, women in their mid thirties and older are more likely to give birth to a child with a chromosomal disorder.
- A couple are blood relatives, such as cousins. Recessive genes for certain disorders are more likely to be switched on in the offspring of relatives.
What Happens in a Genetic Consultation
Genetic consultations will vary depending on the reason for the referral. The professional will probably look at the reason, and also the person’s understanding. Areas they might assess include the person’s current health, their medical history, their family’s medical history, psychosocial support and any ethical issues. Sometimes a physical examination is suggested.
The professional will evaluate the information gathered and communicate it with the person. If appropriate, they will make or rule out a diagnosis and/or advise the person as to their options. This will depend on the situation. For example, if the person has a genetic disorder, the professional will advise them as to prognosis, treatment, reproductive issues and genetic testing available.
Genetics professionals are trained to be supportive, and to arrange follow-up appointments if necessary. A person seeking a genetic consultation may need emotional support, and the professional is trained to be aware of these needs. Sometimes a professional will refer the person to other supportive organisations.
Genetics professional will not make decisions for others. In the above example of a person who may have Huntington’s disease, a genetics professional would offer information and support. They would not tell the person whether or not to get tested – that is for the individual to decide. Similarly, a genetics professional will not tell people to avoid, start, continue with or end a pregnancy.
Sources
Genetic consultation, Genetics Home Reference https://ghr.nlm.nih.gov/primer/testing/genetictesting
Indications for a genetic referral, https://www.ncbi.nlm.nih.gov/books/NBK115554/
What is a Genetics Consultation?, GeneTests https://www.genetests.org/