550 MHR • Course Challenge
not all individuals who inherit the gene will
experience significant problems.Q: How do you go about helping people in
these cases?
A:We meet with individuals or families and
take a detailed family history to construct a
pedigree. This pedigree, along with medical
documentation of the disorder, helps us to
establish the mode of inheritance and
estimate the risk of porphyria for that
individual or for a couple. This information
may also be helpful for a couple’s children
or if they are planning a pregnancy and are
interested in prenatal testing options. The
choices to pursue information and potential
options in testing are up to each individual
or couple.Q: What other resources do you tap into in
your job?
A:We work as a team with clinical geneticists.
These specialists are physicians who assess
patients directly for evidence of genetic
disorders or syndromes. We also make use
of laboratory resources. In the case of
porphyria,lab resources would include tests
for abnormal metabolites, for example.Q: What advice can you give to students who
may be interested in a job as a genetic
counsellor?
A:A genetic counsellor needs a sound
scientific background along with strong
interpersonal and communication skills.
Genetic counsellors must be adept at
working both independently and as a team
member. Other qualities would include an
empathic nature, open-mindedness, and a
drive for ongoing learning. Students
interested in pursuing this profession
should access genetic counselling resources
on the Internet. Also, they might contact
local genetic counsellors to obtain personal
perspectives. Finally, they can volunteer
for positions that involve training in
communication skills.http://www.mcgrawhill.ca/links/biology12
To find out more about porphyria, visit the web site above,
and click on Web Linksto access information from the
Canadian Porphyria Foundation.