Finding Clues in Genes of ‘Exceptional Responders’

“Grace Silva has a horrible form of thyroid cancer that is considered untreatable — usually, patients are sent to a hospice and die within months of learning they have the disease. But she is still alive four years after her diagnosis. She is what cancer doctors call an exceptional responder: someone who defies all expectations by responding dramatically to a drug tried not with a real rationale but more out of a doctor’s desperate urge to do something.

“The annals of medicine are full of stories of exceptional responders, but until recently, they were just that: stories. Case histories that could not be generalized because there was no way to know why these patients got better when others did not.

“But now, with the advent of rapid and inexpensive gene sequencing, theNational Cancer Institute has started a nationwide search for people like Mrs. Silva to try to figure out the genetic changes that allowed them to respond. And The New England Journal of Medicine published her story on Wednesday as a case history in the new genetic era. It concludes with a lesson that may help doctors treat thousands of patients with more common cancers, like breast and bladder cancer, and even find an alternative when a drug stops working.”

Faster Genetic Testing Method will Likely Transform Care for Many Patients with Breast Cancer

“When a woman is diagnosed with breast cancer, it’s important to know as much about her tumour as possible to determine the best treatment. Most cases of breast cancer are sporadic, but a minority are hereditary and caused by one or more mutations in genes such as BRCA1 or BRCA2. To find such genetic mutations in newly diagnosed patients, researchers must sequence the woman’s DNA, which is generally a relatively slow process that generates results weeks or months after patients have started treatment. Next generation sequencing (NGS) is a newer method of sequencing DNA that processes large amounts of data. It’s faster and more expensive than conventional sequencing, but in recent years it has become cheaper and more widely accessible by rapid advances in computing power. With the use of NGS, which will soon become the mainstay of clinical genetics, breast cancer units will likely be able to get the results of genetic testing before patients begin their breast cancer treatment.”