Diving Into The Clinical Side Of Genetic Counselling

To Breana Cham, Senior Principal Genetic Counsellor, KK Women’s and Children’s Hospital (KKH), life and death situations about genetic conditions are common topics on the job. Through consultations, genetic counsellors like Breana help patients and families understand the medical, psychological and hereditary significance of genetic conditions—and how to manage them.

“‘If you or your child has a genetic condition, who else in the family should we be concerned about?’ That’s a question we often grapple alongside patients and their families in the consultation,” says Breana. “Fears about genetic and birth conditions are common—unfounded or not—and they can be very real and present fears.

What we do as genetic counsellors helps patients and families make informed decisions according to their values and wishes.”

Work Starts before Patients come through the Door

For Breana, much of the work is done even before meeting patients for the first time. “Usually I get a referral letter or the patient’s family history. If I find that the information provided is not enough for an evaluation, I contact the referring doctor or patient directly for more medical records or test results. For extremely rare genetic conditions, I look for up-to-date information about the diagnosis by reading the latest medical journals and check local and international management guidelines.

“Then there are the unknown conditions. In these instances, I will piece together the various information, including official medical reports, informal medical information and family history, and also the patient’s story when we meet during consultation. Family stories may not be hard evidence like a confirmed genetic diagnosis, but it gives me a good sense of what the medical condition may be.”

Breana’s years of experience have also taught her not to underestimate patients. “They can be very resourceful,” she says. “It’s amazing how much you can gather from oral history, and what patients share also gives me a sense of what the dynamics are like within the family—which may affect how and whom we should discuss topics such as therapy options and care arrangements later on.”

Marrying the Scientific and Human Aspects of Medicine

Despite recent medical and scientific breakthroughs, knowledge gaps and misconceptions about genetic conditions are still common. Breana says, “I see the role of genetic counsellors as the bridge between scientific knowledge and how it can be translated into something useful for patients. Simply by helping patients understand their diagnoses can go a long way in helping them anticipate their medical needs and care options to make informed decisions.”

Breana continues, “That is why even though the information we share with patients is grounded in scientific evidence, having interpersonal skills to listen and build rapport is equally important, if not more. Maybe because of this, we are sometimes confused with  medical social workers. While medical social workers provide significant psychosocial support and help, what differentiates us is that we are trained in the medical aspects of genetic conditions and better positioned to help patients navigate their rare medical issues.

“But more often, we are mistaken for doctors—although unlike doctors, we don’t give diagnoses or prescribe medications. Instead, we journey along with patients to help them navigate and cope with the medical and psychosocial aspects of their conditions. The great thing at KKH is that genetic counsellors and doctors work closely as an interdisciplinary team to support one another. My hope is that one day, this extends beyond hospitals—and genetic counsellors are embraced as partners and resources in medical teams across various care settings.”