Sema4 helping to make genetic testing easier for breast cancer

Healthcare Tech Outlook | Monday, January 10, 2022

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Sema4 is helping to overcome hurdles in genetic testing for patients as well as doctors. Genetic testing is more effective than conventional diagnosis for breast cancer.

FREMONT, CA:Mammograms and physical exams have so far helped women to detect breast cancer.  Having prior knowledge about the genetic evidence of the disease can help them benefit from more sustainable options. Ken Onel, senior vice president of translational genetics at Sema4, communicated about the tools and technologies existing to aid patients.

According to Ken, Tomosynthesis is one such advancement in technology that is helping to detect breast cancer faster than before. The fact that genetic cancer detection can save lives and bring in changes in the progenies, has compelled care providers to perform testing for women who are expected to be at high risk.

Chances are that one in eight women will be treated for breast cancer in her lifetime. A woman who has a "pathogenic variant" in her gene is more likely to be at risk than the women in the general population.  The woman carrying the pathogen should be taken critical care of starting at a very early age. It also helps doctors to detect and treat it efficiently.

Genetic testing for women is simple to perform, the doctor asks for the blood sample and sends it to the laboratory. After the testing, the genes are segregated to detect the pathogen variant that hinders the normal function of proteins. If it is the case, then the patient is considered to be positive. Positive patients are kept under supervision as advised by the doctor.

Variants in genes are also associated sometimes with male breast cancer. Each progeny of the same variant irrespective of gender suffers from the partial risk of cancer. So, it is a mandate for all the members of such families to be a part of this supervision. 

Since hereditary cancer testing is not a part of healthcare testing as per standards, it sometimes becomes difficult for doctors to diagnose with the same approach. Patients should keep a check on their doctors to ensure that they are going the right way with diagnosis.