New Family Cancer Risk Program at Baystate Medical Center unlocks the genetic code to breast cancer

SPRINGFIELD – Breast cancer survivor Diane Santos, before undergoing surgery, opted for genetic testing to see if she carried the BRCA gene, which greatly increases the risk of female breast cancer.
Her mother and sister both died of breast cancer, but it was never known if they, too, carried the gene, since they were never tested. It is for women like them, and those with a family history of various cancers, that the new Family Cancer Risk Program was born at Baystate Medical Center.
“After being tested for the BRCA gene, I learned that I was BRCA2 mutation positive. I opted instead for a bilateral mastectomy as a preventive measure,” said Santos, whose surgery was performed by oncology surgeon Dr. Holly Mason, director of Breast Services at Baystate Medical Center.
It wasn’t only her breasts that Santos had to be concerned about. A woman’s lifetime risk of developing ovarian cancer is also greatly increased if she inherits the BRCA1 or BRCA2 gene mutation.
“As a result, I opted to have additional surgery to remove my ovaries and fallopian tubes as an additional preventive measure,” said Santos, of Springfield.
Today, the area of genetic testing to identify individuals at higher risk of developing cancer has exploded. Two years ago, there was one test, BRCA1/2, performed by one laboratory. Now there are panels of genes to assess, dozens of different laboratories, and online direct-to-consumer testing with variable quality and without face-to-face counseling to address individual concerns, noted Dr. Grace Makari-Judson, chair of the Baystate Health Breast Network.
In anticipation of the growing need, Baystate Medical Center developed the Family Cancer Risk Program, a collaborative effort between the hospital’s Genetics Department and the D’Amour Center for Cancer Care.
“The goal of our program is to test the right person in the family, with the right test, at the right time. When a patient is referred to us, our navigator contacts them to obtain a detailed family history going back at least three generations. We also ask them for copies of genetic test results from other family members,” said Dr. Makari-Judson, who holds certification in Familial Cancer Risk Assessment and Counseling.
“Our experience with this program is that the behind-the-scenes information gathering and triage reduces the number of visits and provides patients and their families with test results that are more informative,” she added.
The information is reviewed by an integrated team at the hospital, including genetic counselors, cancer specialists and a nurse practitioner before an appointment is made. It is also important to assess whether or not insurance covers the test, and which laboratory the patient’s insurance may prefer to use. It is generally preferable to first test an individual in the family who has previously been diagnosed with cancer, however, this is not always possible.
“Genetic testing is a tool that allows individuals to make informed decisions about screening or surgery when they understand their true cancer risk,” said Beverly Tenenholz, one of the genetic counselors involved in the new program.
According to Tenenholz, many individuals overestimate their cancer risk, and the risk assessment program helps to identify those individuals who will truly be helped by the genetic testing process.
“During our genetic counseling time with a patient, we cover a wide range of subjects including reviewing their family history and determining the chance of having a gene mutation. We also discuss insurance issues, as well as the benefits and limitations of testing and how to deal emotionally with these results,” said Tenenholz, a licensed genetics counselor.
Dr. Makari-Judson noted what they are attempting to accomplish is to identify individuals who are at higher lifetime risk of developing cancer based on genes that they have inherited.
“We want to guide them in making decisions to reduce their risk of cancer, and ultimately we hope to prevent them from ever having to go through diagnosis and treatment,” she said.
Those with a family history of cancer should discuss with their physician the benefits of genetic testing for referral to the Family Cancer Risk Program at Baystate.
To make an appointment, call 413-794-8899, then select option 2 and let them know you have a history of cancer in your family.
For more information on Baystate Medical Center, visit

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