Genetic testing offers a weapon to detect breast cancer: Sema4


While mammograms and physical exams have long been suggested options to help women detect breast cancer, people with a family history of the disease may benefit from more proactive choices. Ken Onel, senior vice president of translational genetics at Sema4, spoke with Outsourcing-Pharma about the powerful tools and technologies available to help patients, caregivers and researchers identify and fight disease.

OSP: Could you please share an overview of how breast cancer detection and diagnostic testing has evolved in recent years?

KO: Advances in imaging, such as tomosynthesis, have helped clinicians detect and diagnose breast cancer earlier than with traditional mammography alone. The recognition that testing for hereditary cancer can save lives and even change the health trajectory of families has led many primary care providers and obstetrician-gynecologists to perform tests to identify women at high risk for cancer. breast (and other cancers as well).

As a result, these women can be followed closely so that, if they do develop breast cancer, it can be detected early when it is most curable.

OSP: Specifically, how has genetic testing helped detect and prevent CB in patients at risk?

KO: About one in eight women will be diagnosed with breast cancer in her lifetime. Women who have what is called a ‘pathogenic variant’ in a gene associated with an inherited predisposition to cancer, such as BRCA1 or BRCA2, may have a lifetime increased risk of being diagnosed with breast cancer compared to women with the general population. These women may be offered more intensive breast cancer surveillance, starting at a younger age and using additional imaging modalities. This allows doctors to identify cancers at earlier stages, when they are easier to treat.

Some women also choose to take certain medications or undergo harm reduction procedures, such as prophylactic mastectomies, to reduce their risk of developing breast cancer.

OSP: Please share some details about the detection and understanding of the BRCA gene, and how other genes (you mentioned ATM, CHEK2, PALB2) are also important to include in the discussion.

KO: While one in eight women in the general population will be diagnosed with breast cancer during her lifetime, this proportion increases significantly for women with pathogenic variants in the BRCA1 or BRCA2 genes. These pathogenic variants can be identified by a woman’s doctor by performing genetic testing for hereditary cancer.

However, pathogenic variation in other genes such as ATM, CHEK2, and PALB2 is also associated with an increased risk of breast cancer and other cancers. Therefore, if a doctor chooses to order genetic testing for a woman who they believe has an increased risk of breast cancer due to her genetics, it is important to keep in mind that BRCA1 and BRCA2 are not. the only genes associated with an increased risk of breast cancer, and therefore, for most women, it makes sense to request testing from a “panel” of genes.

OSP: Please talk about comprehensive hereditary testing: what does such a test involve and what can it do for patients by helping them protect themselves against BC?

KO: Genetic screening for hereditary cancer syndromes is very simple. A doctor orders a test for a patient, a blood or sputum sample is taken, and then sent to a lab. In the testing lab, a panel of genes associated with hereditary cancer is sequenced and the sequence of each gene is analyzed to determine if the patient has a pathogenic variant that disrupts the normal function of the protein encoded by that gene. If so, this is called a “positive” result.

For women who test positive, that person’s doctor will then set up an ongoing personalized monitoring plan based on the results of genetic tests, as well as their personal family and medical history. The entire testing process typically takes around two to three weeks and, for most patients, is covered by insurance.

OSP: Could you please explain why men should not be excluded from this conversation?

KO: Variants in genes associated with breast cancer in women are often also associated with an increased risk of certain types of cancer in men. Sometimes this even includes an increased risk of breast cancer in men. In addition, every child – male or female – of a parent – father or mother – with a pathogenic variant of an inherited cancer gene has a 50% chance of inheriting that variant. So, for both their own health and that of their children, men should be part of the conversation and should discuss genetic testing with their doctor.

OSP: Why is it important for patients to bring up the topic of hereditary testing when talking to their doctor? Also, is this something that doctors remain uninformed about, to some extent?

KO: While it has such important implications for patients and their families, unfortunately screening for hereditary cancer is not part of the standard of care in all specialties. Doctors may not know how to order a genetic test or which test is best for their patient, and they may also not know what to do with the results.

It is important for the patient to proactively ask questions about hereditary testing if their doctor does not address the subject. This information can save lives.

OSP: How can Sema4’s solutions help in the identification and management of POs?

KO: Sema4 Signal is our portfolio of precision oncology solutions allowing providers to identify patients at high risk of breast cancer and other cancers, create a personalized plan to reduce their cancer risk, detect cancer at an earlier and more treatable stage and help family members who may also be at increased risk. Most importantly, we not only help families through genetic testing, but we also improve care by providing patients and providers with trained genetic counselors who can help physicians develop personalized monitoring plans for their patients.

Our solutions also help patients who are diagnosed with cancer by enabling their doctors to identify ways to attack cancer using new targeted therapies and immunotherapies. The hope is that these new treatment strategies will tackle a specific cancer while sparing the patient the side effects of chemotherapy or radiation therapy. Our goal is to provide the information patients and providers need to improve care in terms of prevention, treatment and long-term follow-up.

About Hubert Lee

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