Genetics: Imperfect “science”? A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then The Odds Changed.

Oncologists will have to deal with the onslaught of the genetic lab reports in the near future. How do we explain to people that there are thousands of variants and labs rely on only “English-published” reports? People would want to reduce the uncertainty in their lives, for obvious reasons. The story highlights the human aspect of genetic testing (it is well written) and the onus on the clinicians is to explain the process in a clear and concise manner. It also means that we shouldn’t be half clever about the statistics (I am looking at you, you damned p-value!)

People act on these reports and it is a dangerous fallacy to rush in

Myriad’s Ms. Manley said the reports stress that using the results to make clinical decisions should also include a patient’s personal and family history. Researchers are trying to find better ways to personalize individual risk assessment.

For now, “The risks we put on the report are general,” she said. Labs don’t all agree on classifications. Other genetic testing companies still classify the mutation that the family members have as harmful.

Unlike many medical tests, “genetics is murky,” says Stephen J. Chanock, a geneticist and director of the division of cancer epidemiology and genetics at the National Cancer Institute. “It’s not so simple as ‘Doctor, do I have to worry or don’t I have to worry?’ ” he said. “There is a continuum of risk.”

A Genetic Test Led Seven Women in One Family to Have Major Surgery. Then The Odds Changed. – WSJ