A genetic consultation is a specialized medical service. During a consultation, a medical geneticist meets with an individual or family to diagnose, investigate, evaluate, or rule out a genetic condition and/or discuss potential genetic risks. Individuals or families receive guidance and information related to inherited conditions and the associated risks. It involves a thorough review of personal and family medical histories, as well as discussions about genetic testing options, interpretation of results, and potential healthcare management.

A medical geneticist, also called a clinical geneticist, is a medical doctor who has specialized in the field of medical genetics. Medical geneticists have completed specialized training which allows them to diagnose, investigate, evaluate, manage, treat, and provide consultations to individuals of all ages with conditions known or suspected to have an underlying genetic cause.

With their distinctive skill set, they can synthesize intricate information encompassing a person's familial background, medical history, clinical examination, genetic test results, and other specialized investigations. This enables them to establish a diagnosis or compile a list of potential differential diagnoses.

They are trained to convey their findings and the associated implications in a supportive and comprehensible manner. Further, they can recommend and direct you to rare disease organizations or support groups. They will investigate recent breakthroughs, new treatments, or clinical trials that may be pertinent to your situation.

A genetic consultation may be recommended if you have a personal or family history of genetic disorders, cancer, congenital anomalies, recurrent miscarriages, or if you are planning a pregnancy. It can also be beneficial for individuals with a known genetic condition to discuss implications for themselves and their family members.

You can schedule a genetic consultation via Doctena or by calling us.

During a genetic consultation, a medical geneticist will review your medical and family history (creating a three-generation family tree), discuss your medical concerns and existing clinical suspicions, provide potential differential diagnoses, and explain the benefits and limitations of genetic testing. They will provide information about the likelihood of genetic conditions and help you make informed decisions about testing based on your unique situation. If required, a clinical examination can be part of the consultation. Expect the initial consultation to last between 45-60 minutes.

Preferably, and as recommended by international guidelines, a genetics professional should be involved when a decision regarding genetic testing is made - especially to discuss possible outcomes and implications.

In case you have already received genetic testing results (e.g. by direct-to-consumer testing), it is strongly advisable to consult a genetic professional (i.e. medical geneticist). Irrespectively, if the result is positive, negative, or uncertain (so-called Variant of Unknown Significance - VUS). Most genetic results require thorough interpretation in the context of your personal and family history, while further implications and potential recurrence risks should be reviewed. In some cases, testing of other family members or further/different genetic testing may be recommended to paint a clear diagnostic picture.

There are various types of genetic testing, including diagnostic testing to identify a specific genetic condition, predictive testing to assess the risk of developing a condition, and carrier testing to determine the risk of passing a genetic disorder to offspring. The choice of testing depends on individual circumstances and goals. Learn more here.

No, genetic testing during pregnancy is not mandatory. It is a personal choice, and the decision to undergo testing is based on individual preferences, family history, and medical indication. A genetic consultation can help you understand the available options and make informed decisions regarding invasive and non-invasive prenatal testing.

Genetic results will be communicated by the medical geneticist in a clear and understandable manner. The implications of results, potential treatment options, and recommendations for follow-up care will be discussed during post-test consultation.