Imagine a world where every person with breast cancer has access to personalized treatments and prevention strategies tailored to their unique genetic makeup. That’s the exciting promise of genetic testing, a groundbreaking tool that’s transforming cancer care as we know it. A recent study from Invitae, a leading medical genetics company, revealed that machine learning has been instrumental in clarifying more than 20 percent of uncertain genetic test results for hereditary breast cancer, particularly benefiting underrepresented populations. This study also highlighted that Black individuals with a history of breast cancer had a definitive classification (22 percent) based on machine learning evidence, compared to their white counterparts (12 percent).
To dive deeper into this research and its implications, BlackDoctor.org sat down with Dr. Ed Esplin, a Clinical Geneticist at Invitae and co-author of the study. Dr. Esplin shared insights into his work in cancer genetics, his mission to enhance access to genetic testing and healthcare for diverse populations, and the critical role of genetic testing in healthcare today. Dr. Esplin leads efforts in cancer genetics, conducting internal and collaborative research to understand cancer causes, improve treatment effectiveness across ancestries, and demonstrate how genetic testing can impact patient care. He focuses on using genetic testing to inform at-risk relatives, enabling early screenings and interventions to prevent cancer or reduce risk.
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What is Genetic Testing?
Genetic testing is a vital tool for individuals with conditions like breast cancer. It involves sequencing a patient’s DNA to identify any gene changes that may increase cancer risk. However, interpreting these changes can be challenging, especially for variants of uncertain significance. This is where machine learning and diverse patient data come in, helping reclassify these variants and provide more accurate results for patients, regardless of their background.
“Everyone with breast cancer should consider genetic testing to ensure they have access to the most advanced surgical interventions, medical therapies, and post-treatment prevention options available,” Dr. Esplin shares. “Genetic testing typically takes 10-20 days to get results, but can sometimes be completed in as little as a week, allowing for timely decision-making in treatment.”
Here are nine things you need to know about genetic testing, according to Dr. Esplin:
1. Genetic testing is affordable and accessible for all.
Contrary to what some may believe, genetic testing is affordable for all patients with breast cancer.
“The cost of genetic testing can be as low as $100 or less with insurance coverage. For patients without insurance, there are options available to make testing affordable,” Dr. Esplin adds.
2. Advancements in genetic testing benefit everyone.
Advances in genetic testing are making healthcare more equitable.
“Advancements in studies like these improve healthcare for patients from diverse backgrounds by increasing the accuracy and clinical utility of test results, reducing uncertainty, and providing personalized treatment and prevention strategies based on genetics,” Dr. Esplin notes.
3. Genetic testing isn’t only for those with a family history.
If you think not having a family history of breast cancer disqualifies you from benefiting from genetic testing, think again.
“The American Society of Breast Surgeons recently established new guidelines recommending genetic testing for all patients with
