Biology 12

(vip2019) #1
Organize a Biology Symposium • MHR 549

from each unit of study, if possible. The quality
of your final product will improve when
knowledgeable links are made between topics.
Remember as well to draw upon ingenuity and
creativity in interpreting your research findings.


Interview: Genetic Counselling


Cheryl Shuman is Director of Genetic Counselling
in the Division of Clinical and Metabolic Genetics
at the Hospital for Sick Children and the Program
Director of the M.Sc. Program in Genetic
Counselling at the University of Toronto.
Stacy Hewson is the Genetic Counsellor for the
Genetic Metabolic Program at the hospital and
is also a faculty member of the M.Sc. Program.


Q: What is the function of a genetic counsellor?
A:Genetic counsellors are health professionals
who provide information and support to
families whose members have birth defects
or genetic disorders. We also help families
who may be at risk for a variety of inherited
conditions. For individuals or families
seeking genetic counselling, we investigate
the problem present in the family. We
interpret information about the disorder,
analyze inheritance patterns and risks of
recurrence, and review available options with
the family. We also provide supportive, non-
directive counselling to individuals and to
families. Genetic counsellors may also be
involved in education and research activities.

Q: What type of training does a genetic
counsellor require?
A:The educational background required to
enter the field of genetic counselling is a
four-year B.Sc. or B.A. with specific
prerequisite courses. Then, graduate work,
an M.Sc. degree, is done in the specific field
of genetic counselling. This is a relatively
young profession – about 30 years old.
However, there is a need for more genetic
counsellors, especially given the new
developments in genetic research and testing
that can be applied to patient care. Families
need help gathering and interpreting data.
They also need help assessing their personal
risk in various situations. In addition, as the
genetic basis for many of the serious or

chronic disorders of adulthood becomes
known, such as coronary artery disease or
cancer, the need for genetic counsellors will
continue to grow.

Genetic counsellors Cheryl Shuman (left) and
Stacy Hewson (right) work in a team that helps
individuals and families cope with the effects of
genetically transmitted disorders.

Q: Have you ever been involved in the care of
a patient with porphyria?
A:Porphyria is a very rare condition. I have
been working in the field for over 20 years,
and I have only dealt with a few families
who have this condition.

Q: When a family comes to you for help and
advice, what is their main concern?
A:With regard to porphyria, we see individuals
for two main reasons. One is to help make a
diagnosis of porphyria in a particular person
if it has been suspected. The other is to help
individuals concerned about their family
history of this disorder who may wish
information regarding their own risk for
having porphyria or their risk for having an
affected child. If a parent has an autosomal
dominant form of porphyria, each of their
children will have a 50 percent chance of
inheriting the gene that causes this condition.
Porphyria is quite variable, however, and
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