Q&A with Ellen Matloff, My Gene Counsel

Ellen T. Matloff founded the Yale Cancer Genetic Counseling program, served as its director and a faculty member at Yale School of Medicine for 18 years, and was a lead plaintiff in the SCOTUS BRCA gene patent case of 2013. She works closely with patient advocates in the areas of genetic counseling and testing, and direct-to-consumer (DTC) genetic testing, and is an expert in responsible return of genetic test results and scalable updating for population studies, health care systems, and precision medicine partners. Read her full bio.

Interview with Ellen Matloff, My Gene Counsel

Q: Cancer Genomic Profiling is being used more routinely as standard of care in many cancer types. To date, it has been used to determine what therapies are most likely to work on that tumor, prognosis for that patient, and to uncover clinical trial options. What else can cancer genomic profiling uncover?

A: This testing can also indicate whether that patient may be at increased risk for an underlying germline genetic mutation.

Q: Why might it be important for a patient to know of an underlying germline mutation?

A: An underlying mutation can help us determine if a patient is at high risk to develop another cancer, or might help choose the best surgery or radiation for that patient. It can also determine if radiation should be avoided.

Q: Could this information be important for family members?

A: Yes, critically important. The information uncovered in Cancer Genomic Profiling, and subsequent counseling and testing, could help us determine if other family members are at high risk to develop cancer, and are candidates for prophylactic surgery, chemoprevention, or early and high risk surveillance. This information can be life-saving.

Q: Are the germline clues uncovered in Cancer Genome Profiling being passed on to the patient and his/her family members, and is the patient offered the verification pathway that would be appropriate?

A: In most cases, no, we fear this information is not being passed on or utilized correctly, which represents a huge lost opportunity in Cancer Genome Profiling for the patient, his/her family members, payers, and our health care system. It also reflects a huge liability for the players involved in this process, including the laboratories, health care systems, and providers.

Q: Are standards and expectations changing around germline clues in Cancer Genomic Profiling?

A: Yes. Standards and expectations are leaning toward full transparency of the germline implications. Laboratories are expected to provide clear information to ordering providers and even consumers, and a clear pathway must be created for responsible genetic counseling and testing.