Genetic counselling offers hope

A five-year-old child comes to the clinic with a cleft palate and symptoms of vision loss. Are the two conditions genetically linked? Does it run in the family?

These are common questions genetic counsellors are faced with.

Patients and their families primarily want to know what's the cause and what the chance is of it happening again, says Deepti Babu, a former genetic counsellor with the Medical Genetics Clinic in Edmonton.

Currently working in a non-clinical role as a medical writer with a U.S.-based commercial genetic testing company, Babu saw patients from newborns to adults running the full gamut of genetic disorders during her 15-year career.

“The public perception is that …we can do your genetic test in 15 minutes and by the conclusion of that time we can tell you everything,” says Babu.

“Our role as clinical genetic counsellors is ... to be a resource for accurate, supportive information. Hopefully by the end of our appointment they feel empowered.”

As members of a genetics team, which includes a geneticist (physician) as well as genetics nurses and dietitians (for metabolism disorders), the role of a genetic counsellor is to explain the nature, inheritance and implications of genetic disorder(s) on individuals and their families.

Genetic testing can identify certain metabolism conditions and hereditary cancers, not just hair and eye colour, which is a common misconception of the field, says Lindsay Burnell, a genetic counsellor and clinical lecturer at the University of Alberta.

Patients typically end up at the genetics clinic when they suspect a genetic disorder (and they have been referred from their family doctor) or someone in their family has recently been diagnosed with one.

After diagnosis by a physician it is the genetic counsellor's job to investigate further. They take detailed family histories and analyze inheritance patterns, risks of occurrence and discuss with families additional screening options, prevention and the choice available to them.

The genetics team sees everyone from new parents looking to start a family to adults curious about their genetic predisposition to cancer, says Burnell.

Genetic counsellors educate patients about genetic disorders, but they can't predict how it will impact an individual or their family.

“We can't always predict what that will mean for a patient. Not all conditions involve one single gene and not all conditions can be tested for.”

Testing for chromosome disorders (Down Syndrome) or single gene disorders such as hemochromatosis and cystic fibrosis can be done locally, while tests for more complex and rare disorders are sent to another province or country.

Not all symptoms of a condition may be obvious, certain tests may not even be available, and an individual may not even qualify for testing. Thus, receiving a diagnosis can range from weeks to years, says Babu.

“There are large limitations in what we can tell families. There are still some question marks with any genetic test result. It is rarely 100 per cent.”

“We have a good understanding of what genes make up the human genome, but we still don't fully understand how they work, how they work with each other, or how they work with the environment,” she says.

The most common question Babu would get when counselling families is “What would you do?”

“I can't answer that question,” she says, explaining that the question stems from uncertainty of the future.

Even though genetic counsellors aren't always telling patients what they want to hear, most are receptive to having that information, adds Burnell.

“In the end, our role is to make sure you are doing what's right for you and your family and you're doing it with an open mind and open eyes,” says Babu.

“There may be no cure for a genetic condition, but…there is hope and there is help.”