Will Personalized Medicine Help or Harm Us?
The danger of knowing more about the risks to your future health
Sian Abrahams’ mother was only 46 when she died of breast cancer. A few years later, her father died of bowel cancer at the age of 76. Her half-brother developed skin cancer. When Abrahams’ older sister was diagnosed with cancer of the peritoneum — a rare cancer closely linked to cancer of the ovaries — Abrahams sought out her family practitioner, who referred her to a geneticist.
He carried out a test on Abrahams and her sister to determine whether they carried mutations on the BRCA1 or BRCA2 genes, both of which carry a substantially increased risk of breast cancer and other cancers in women. The results didn’t arrive for months. And then, at that first appointment, based on her family history alone, Abrahams was told she had a one in two chance of developing cancer.
“That’s when I made the decision to have the hysterectomy,” Abrahams says. She found a surgeon willing to perform an operation to remove her ovaries, cervix, and uterus, sending her straight into menopause. “Because I was only 38, people would say, ‘Do you not want anymore children? You’re still quite young.’ But for me, it was about staying alive for the child that I had.”
Abrahams’ surgery was 11 years ago. But the decision she faced — of whether to act on a set of risk factors based on her genetic profile — is one that may, in time, be faced by all of us. Personalized medicine, also known as precision medicine, is improving scientists’ understanding of how to tailor treatment to an individual patient and how an individual’s genetic makeup might predispose them to particular diseases. A small blood sample is now all it takes to sequence a person’s entire genome. The sequencing can be carried out in a day, though analysis is a more lengthy process.
Research to understand the role genes play in disease is well underway. The U.K. has a project to map the genomes of 100,000 individuals, comparing them to a reference genome to identify potentially harmful genetic variants. Across the world, biobanks, which include human tissue samples from thousands of people, along with anonymized (or de-identified) health care records, are making it possible to investigate the link between…