PrintStraight from the Expert
Genetic Counselling – Sheri Horsburgh
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Sheri Horsburgh, Genetic Counsellor at the The Fred A. Litwin Family Centre in Genetic Medicine |
Genetic Counselling Awareness Week is November 22-28. We sat down with Sheri Horsburgh, Genetic Counsellor at the The Fred A. Litwin Family Centre in Genetic Medicine, UHN and Mt. Sinai, to learn more about genetic counseling and how it helps patients.
Let’s start with the basics—what is genetics counselling?
Genetic counselling educates patients and families about hereditary medical conditions. The patient or family can learn about a specific genetic condition, how it’s inherited in a family, if genetic testing is available, and how the condition is managed or treated. In addition, the patient is often provided with information on any support groups for the condition or relevant research.
Genetic counsellors are health care professionals that work as part of a health care team to provide this education. Genetic counsellors usually work with physicians with specialized training in genetics (clinical and metabolic geneticists) or other medical specialists (i.e. oncologists, cardiologists, etc) caring for patients with hereditary conditions. Other members of the genetics team can include nurses, dieticians, social workers, and clinical research coordinators.
What kinds of things do you look for (or, what can you actually learn through genetic counselling?)
Genetic counselling provides you with an opportunity to learn about genetic conditions running in your family that you may be at risk of developing. This includes learning about the features and symptoms of the condition, how it is inherited, the chance to develop the condition, the appropriate screening and management of the condition, and options for genetic testing.
Who is it for?
Genetic counselling is available to individuals who are concerned about a hereditary genetic condition in themselves or their family. There are different areas of specialization in genetics, including prenatal, pediatric and adult genetics.
At UHN, we are focused on adults with genetic conditions and have two clinics devoted to care of these patients. The Familial Breast and Ovarian cancer clinic at PMH focuses on patients with forms of hereditary breast and ovarian cancer. And the Fred A. Litwin Family Centre in Genetic Medicine, which is a joint clinic of UHN and MSH and focuses on adults with a variety of genetic conditions.
The types of patients seen in the Fred A. Litwin Family Centre in Genetic Medicine can be subdivided into clinical and metabolic conditions. Some examples of patients seen in this clinic would be patients with
cardiac diseases such as cardiomyopathy or arrhythmia conditions, renal diseases, such as renal cancers or renal cysts, neurological diseases, or diseases causing infertility.
How does it benefit people?
In some case, a genetics assessment through our team can help to confirm a medical diagnosis, which may impact medical management. In addition, identifying a genetic condition in a family allows for education of other at-risk relatives and screening with genetic testing or other modalities to see who else in the family may develop the condition.
What about people who learn they have an illness that’s not preventable and not curable?
One of the roles of genetic counselors is to help people understand the potential implications of genetic testing prior to the testing. This helps people gain a realistic expectation of the information that testing can provide about the implications of a diagnosis, possible management options and risks to other family members.
In some cases, confirming a diagnosis allows patients to understand the prognosis and future medical issues they may experience, even if it is not preventable or curable. Some patients indicate that finally having an answer for their medical problems provides psychological benefit. In addition, some families are motivated to pursue diagnostic genetic testing so they can have a better understanding of the implications for other family members.
Can you describe an average day for yourself?
As mentioned earlier, we work as part of a health care team. This can include nurses, dieticians, and physicians with expertise in genetics. In a typical day, we would work together with a geneticist or other specialist to see patients in a clinic setting. The patients could have a wide variety of genetic conditions. We would help gather medical and family history from the patient, provide education about the condition, review general concepts of genetics and inheritance, and discuss options for genetic testing.
Some patients will be seen on a few occasions, such as an initial assessment and then a follow-up visit to discuss the results of genetic testing. Patients with metabolic genetic conditions are usually seen on a regular basis for management of their medical illness.
We hear a lot about genetics research in the news, but how much actually filters down to the patient level?
It is true that new discoveries in the genetics of both rare and complex medical conditions occur daily. Many of these discoveries will at some point in the future allow for better characterization and sometimes genetic testing for a subset of patients, but there is often a significant time lag between discovery and implementation into clinical practice.
The story of genetic causes of autism is one recent example of this phenomenon. There has been a great deal of information in popular media sources, about new and exciting discoveries about the genetic causes of autism. Understandably, people with autism or parents of children with autism are very keen to learn more about this and the possibility of genetic testing to determine the cause in their families. However, at this point the information from these recent studies is not always useful in clinical practice and options for genetic investigations for autism are still quite limited. Explaining the differences between scientific discoveries and utility for individual patients is one of the roles of genetic counsellors.
