'My visits are seldom welcome:' Life as a geneticist

A few years ago we ran a post called 'Everytime I see her I feel guilt.' It was about an article in the American Journal of Medical Genetics by Dr. Malgorzata (Margaret) Nowaczyk, a pediatrician and clinical geneticist at McMaster University in Hamilton, Ont. In the article, Margaret said: "Doctors write stories to give voice to the human element of the illness story that modern medicine has taught them to ignore. Doctors' stories can be as powerful as patients' stories, but doctors rarely allow themselves to tell them." BLOOM asked Margaret to share 10 things she knows about being a clinical geneticist.

By Dr. Malgorzata Nowaczyk

1. I never tell patients what to do, even when they ask, but I always support the decision they make, no matter how different it is from my beliefs and experiences. Prenatal diagnosis is the most difficult for me because here you really do deal with life-and-death decisions. Some decisions mean that a life will not happen.

2. In genetics there’s never one patient. When a diagnosis is made, it frequently affects the patient’s whole biological family in ways unforeseen. Patients require a lot of education. Sometimes they don’t want to share their genetic results with family members, and this puts the physician in a terrible bind. If I shared information with the family members at risk, I would violate patient privacy. I have had situations where a child was born with severe disabilities because a patient chose to withhold information.

3. The field of genetics changes all the time, especially in the last decade.  As a result, most of what we learned in medical school or residency is obsolete—if not just wrong. I am constantly learning—reading or writing articles for medical journals, attending and presenting at conferences and discussing new developments with colleagues and experts. While this is challenging, it’s also intellectually stimulating.

4. People don’t cherish their relationship with geneticists the way they do with other doctors—probably because we aren’t in the business of fixing things. My visits are seldom welcome. I’m often giving news of a serious diagnosis. In 20 years I have received three thank-you cards. Around Christmas time, when my pediatric colleagues carry home baskets full of gifts and cards, I go home empty-handed. That’s why the thanks I do get is so precious.

5. No single geneticist is an expert on all conditions. Almost every day I consult with other geneticists in a network around the globe.  We tend to be very collaborative.

6. Photos help us document clinical features, remember patients and track the progression of a disease. Before images became available on the Internet, it was textbook photos that taught me to recognize a multitude of syndromes. I’m grateful to those patients in the textbooks, although I recognize that often consent was not obtained properly. I understand that having photos taken is sensitive for families. I present them as an option, discuss the pros and cons, and always honour a refusal.  

7. I have seen people at the worst times of their lives and bore witness to the astounding strength of the human spirit. I have also witnessed times when suffering outweighs a patient’s or family’s ability to cope. In these cases, we try our best and then we ask for help from our wonderful and experienced social workers.

8. Clinical genetics is highly specialized. We are not researchers who work in the lab, and we are not genetic counselors. We are doctors. It takes 15 years to become a clinical geneticist: four years of undergraduate work, four years of medical school, five years of residency and another two to three years of fellowship or research. I would say it takes another 10 to 15 years of work in the field to feel truly qualified.

9. Over the years I have paid a high personal and emotional price for work in this field. I started off as a medical student fascinated by the genetic and metabolic puzzles that conditions offered for solving, but with experience I ended up caring a lot more about patients’ stories and journeys than the diseases they have. That has taken a toll. Most of the time I can’t cure the disease, but I feel that I can do something for the patient and his or her family: offer support, understanding of the disease process and acceptance.

10. If I was to start my professional life over again, I would choose genetics, again. In a heartbeat.