November 17th- 23rd is Genetic Counselling Awareness Week. What is a Clinical Geneticist? A clinical geneticist is a doctor who specializes in diagnosing and treating individuals and/or families with different medical issues that are genetic in nature and can include single or multiple birth defects, sensory deficits (like hearing loss or blindness), learning disabilities and developmental delay, errors or metabolism, problems with growth (short or tall stature) and familial disorders such as cancer, high cholesterol and heart disease. What is a Genetic Counsellor? Genetic counsellors are health care professionals with specialized Master of Science graduate degrees, with experience in the areas of medical genetics and counselling. Genetic counsellors can help families understand a diagnosis by providing accurate, currents and comprehensive information about their diagnosis. In addition, genetic counsellors can help individuals understand the information relevant to reproductive risks and risks to other family members. An emphasis is put on helping individuals cope with the emotional impact of genetic conditions in their families by providing preliminary counselling and referring patients to other support networks as needed. What To Expect At A Genetics Appointment • The initial appointment may last anywhere from 1-3 hours, so be prepared to stay for a while. • The geneticist/genetic counsellor will take an extensive patient and family medical history. It is best to come prepared with as much of this information as you can so that you will not have to try and remember it on the spot. Some questions may seem personal or irrelevant but they will help to diagnose your condition. • The geneticist will then perform a physical exam and will probably take measurements. You will most likely be evaluated according to the Beighton and Brighton scales. You will be asked to do/put through a series of movements to assess your joint flexibility. Your skin will be assessed for flexibility/extensibility using calipers. • You may be sent for further tests (either before or after your initial appointment) such as blood work, x-rays, EKG, MRI, ultrasound, biopsy etc. • You may also be referred on to see other specialists such as a cardiologist, neurologist, rheumatologist or ophthalmologist. • At the end of the initial appointment the geneticist/genetic counsellor may be ready to give you your diagnosis or may need more time or need to wait for the results of tests. What Happens After The Genetics Appointment? Sometimes a follow up appointment is not necessary. Sometimes it is. If an appointment is not necessary, a letter summarizing the evaluation, discussion and follow up plans will be sent to the referring physician and family doctor. A letter may also be sent to you. Copyright Ehlers-Danlos Syndrome Canada / Syndrome DEhlers-Danlos Canada Inc. © All Rights Reserved.
Posted on: Mon, 18 Nov 2013 20:24:35 +0000
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