What is Genetic Counseling – and Why Should I Care?: Even if the decision will never be right or wrong, you need information to make it.

For many people, genetics conjures up stereotypical images from scary sci-fi films and cloning horrors such as Dollie the sheep and the Raelian cult. And the idea of seeing a genetic counselor is foreign to most of us. But consider this information: of our 30,000 genes, each of us has seven to eight that are either malfunctioning or inactive, and if we partner with someone who has one or more of the same malfunctioning or inactive genes, then we will have a child with a genetic abnormality.

Moreover, many people think they can simply have all of their genes tested to find the flawed ones. But it's not that easy. First, geneticists need to know what they are looking for. Therefore, people are tested only if they have a family history, ethnic background, or symptoms related to a genetic anomaly. About 5,000 of our genes, when mutated, lead to a clinical condition, and, so far, geneticists have identified only around 1,500 of these disease-causing genes. And they don't yet have tests for them all. As yet, there's no quick fix.

Where do genetic counselors come in?

Genetic counselors have training in the scientific basis of genetics, in the clinical manifestations of different genetic abnormalities, and in counseling. A genetic counselor discusses complicated genetic information in a way the average person can understand and helps individuals make decisions about genetic testing and the potential ramifications of bad news. Genetic counselors work mainly in hospitals but some have private practices or work for private companies.

According to Shelley Kennedy, a pediatric genetic counselor on leave of absence from the Hospital for Sick Children (HSC) in Toronto, there are three main areas of genetic counseling: prenatal, pediatric, and adult onset. Kennedy is an excellent person to explain the ins and outs of this career. She helped develop the MSc Program in Genetic Counselling at the University of Toronto (U of T); she is clinical supervisor for MSc genetic counseling students at U of T; and she teaches a course in research methodology. (At HSC, Kennedy worked specifically in cleft lip and palette, craniofacial, and hereditary hemorrhagic telangiectasia.) In November 2003, she relocated to the King Faisal Specialist Hospital & Research Centre in Saudi Arabia to help set up the division of clinical genetics and to create the genetic counseling program.

The Prenatal Area: Because of the pressure to quickly make a diagnosis and a decision, the prenatal area tends to be the most stressful. A couple will see a genetic counselor if an abnormality has been seen in an ultrasound or in another screening test such as a maternal serum screen. The counselor helps the couple make decisions such as whether to have further diagnostic testing (like amniocentesis) or whether to terminate the pregnancy.

The Pediatric Area: Children are referred to genetic counseling if they have been born with a congenital anomaly and the parents want to know whether it's genetic and whether there's a chance the condition will recur in subsequent children. Or, if a child is not developing normally, he or she may be referred for genetic testing. The benefits of knowing are important. "It gives parents answers about recurrence risks and opens doors to resources in school and the community," says Kennedy.

The Adult Onset Area: Adult onset conditions include early Alzheimer's, early breast cancer, colon cancer, ovarian cancer, and Huntington's disease, as well as conditions that geneticists are only now realizing have a genetic link such as heart disease or a coagulation disorder. Genetic counselors work with adults to figure out whether they have the gene, and if they do, whether to inform other members of the family and to make decisions about issues such as medical management, insurance, having children, and further counseling.

The Investigation

The first session with a genetic counselor involves investigative work. This detective aspect starts with getting the family history – preferably three generations worth. Does the family have any diseases or conditions? Did anyone have more than three miscarriages? Did a baby die and no one knew why? Did someone marry a relative? What is the ethnic background? And, for a child, the genetic counselor takes the full prenatal, birth, developmental, and medical history.

And that's what Kennedy especially loves about the work, "We, in genetics, put it all together. Can we find a common cause for all of these special issues? Can we put it together and give an answer as to why?" Therefore, observation skills are important. Kennedy relays one case when she was taking the family history of a child with cleft palette. The father explained that he wasn't surprised his child had the condition because he, his brother, and his father all had it. Meanwhile, Kennedy noticed the father had significantly underdeveloped fingernails, widely spaced and peg-shaped teeth, and very sparse, thin hair. When she inquired further about his family, the man told her that several other family members also had these features. It turned out they had a condition (cleft palette being one of the symptoms) called ectodermal dysplasia. No one had ever given his family's condition a name or explained the inheritance to them. Kennedy was not only able to explain the condition to them, but she gave them good news as well: their children had a 50% chance of not inheriting it.

The Decision is Yours

Kennedy stresses that genetic counselors have to keep their own biases out of their dialogue with patients. It's an approach called "non-directiveness." "The decision a patient makes is going to be based on their own personal beliefs and their own experiences, which we cannot begin to understand. We present information – complicated medical information – in a way they can understand and help them to make a decision that is congruent with their own beliefs," explains Kennedy. And, in any case, says Kennedy, it's often not so clear cut as to what is the right or wrong decision.

And genetic counselors do, in fact, give good news most of the time. But when she sometimes has to deliver very difficult information, Kennedy tells her patients to feel free to vent their anger toward her because she is a safe target who won't take it personally. And, quite often, they do.

The Clinical Side

In order to explain the complex material to patients, genetic counselors have to have in-depth knowledge of genetics. "You must be a continual learner because this field is constantly changing," says Kennedy. "What you learn in your training will be obsolete by the time you start practicing. I use the computer everyday because what I tell families one week may change by the following week: Is there a genetic test available for a condition? Who's offering it? What stage is testing at?" The clinical aspect of the job is intense: there are more than 10,000 different genetic conditions and even if you specialize in a certain area, you may discover a rare case that has an incidence of one in 100,000.

So now that you know what a genetic counselor does, we bet you're interested in becoming one! With teaching and research on top of her main role, according to Kennedy – who would like to clone herself many times over to do all the work she'd like to – the job is never dull.

To learn more about how to become a genetic counselor, see So You Want to be a Genetic Counselor?

What is Genetic Counseling – and Why Should I Care?

Where do genetic counselors come in?

The Investigation

The Decision is Yours

The Clinical Side

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Samantha Shepherd

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