Monday, June 19, 2017

Here’s why I advise my patients to get genetic testing done

Dr. Christopher Peterson

Dr. Christopher Peterson 

By Dr Chris Peterson

During my fourth year of medicine at Muhimbili University of Health and Allied Sciences(MUHAS), I was placed at Bugando Medical Center for my field work in the department of oncology. This was about three years ago.

On assignment, I came across a patient in her 40’s who was diagnosed with stage IIIB of inflammatory breast cancer. She was accompanied by her daughter.

The results of her mammogram test results clearly showed that the tumour in the woman’s breast had spread to the chest wall, causing swelling and ulceration of the breast.

The tests results left the woman too confused to choose the right treatment plan for her. As a junior doctor then, I only advised her on how to cope with the emotional impacts and recommended her to start a plan for chemotherapy right away.

A coincidence

As I got back to school right after my field work was over, I had no idea how the woman was doing, only wishing everything would be fine with her in her cancer survivorship.

Recently, during one of my working days at Muhimbili National Hospital, I coincidentally met the daughter of the cancer patient I had met during my field work at Bugando Medical Center three years back. The young lady came for a screening as she has been noticing changes in her breast that did not feel right. When I was done with her screening, I was curious to know how her mother was doing. She took a long breath and said, “She lost her battle early last year.” I comforted her and permited her to go.

The story was more than worse for the young lady when her test results revealed she had a stage IA breast cancer, with a small tumor inside her breast which was invasive and has not spread to the lymph nodes.

One thing I can remember so vividly is her knees weakening, losing control, holding onto my table and screaming, “The same cancer that stole the life of my mother is now in me; what does this mean doctor? Should I now believe that, some witch-craft is behind this? Has someone bewitched my family?”

The real story behind this

People should understand that (not all but) many cancers begin as fluke mutation in a single cell. Yet in up to 10 per cent of cancer cases, or more, mutations find their way through family trees with a chance of affecting each new member. When mutations are deemed hereditary, they are present in every cell, including egg and sperm and thus can be passed on to subsequent generations.

For instance, the lifetime risk for developing breast cancer and ovarian cancer is significantly increased for a woman if she inherits breast cancer susceptibility gene mutations.

Inherited gene mutations can’t be repaired but they can be found through genetic testing. Requiring little more than a simple blood draw, or saliva sample, genetic testing is now available for dozens of hereditary cancer syndromes, which are caused by alterations in genes that suppress or activate tumour growth.

Patients might be candidates for genetic testing if they have one or more of these: early onset cancer (usually before 50), more than one cancer diagnosis, and a strong family history of cancer or the presence of rare cancers in the family.

“There is no witchcraft behind all this. Patients should consider genetic testing when cancer runs in their families.”