Understanding Genetic Consultation: Counseling Regarding Inherited and Chromosomal Disorders

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. 

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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/