Technology has always been a big part of medicine, but the patient experience is now changing rapidly. Here’s what you need to know about how three key innovations are – or could be – shaping your care. And, of course, we have our annual list of the most esteemed doctors in Southeastern Wisconsin, as voted on by their peers.
Precision medicine uses your genetic profile to inform medication, treatment – and get ahead of hereditary threats to your health. Your DNA doesn’t just contribute to your disease risk – it can also determine how well treatments work. Precision medicine is a healthcare approach that uses that genetic insight to personalize prevention, diagnosis and care.
“It’s like getting a dress or suit designed for you instead of getting one off the rack,” says Mary Walters, director of pharmacy precision medicine with Aurora Health Care.
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This custom-fit approach is already showing up in everyday medical settings. Here are three ways precision medicine is used today.
Genetic Counseling
Many health conditions have genetic risk factors. Genetic counselors – healthcare providers with specialty graduate training – can help you understand if you’re at risk for genetic conditions, with the goal of preventing them or identifying them early.
“We help people understand how their genes can affect themselves and their families, so they can make an informed choice,” says Jennifer Geurts, associate professor and director of the genetic counseling master’s program at the Medical College of Wisconsin.
Anyone can see a genetic counselor, typically with a referral from a doctor. Insurance usually covers it when someone has a known risk factor – like having a close family member who was diagnosed with breast, uterine or colon cancer before age 50 or a relative who’s had a rare cancer or the same cancer more than once. Genetic counselors may recommend genetic testing to determine risk. If someone has a gene mutation associated with hereditary cancer – breast is one example – they may undergo increased screening.
“Maybe we’d recommend a mammogram and breast MRI alternating every six months or starting at a younger age,” says Isabella Holland, a genetic counselor with UW Health in Madison. “The goal is to catch it earlier when treatment can be more effective.”
Testing can also uncover whether an existing disease is genetic, which can affect treatment. If a heart arrhythmia is found to be hereditary – which is often more severe – doctors might recommend more aggressive action, like surgery or a transplant. If someone tests positive for a mutation in a gene that increases risk for a second bout of breast cancer, a genetic counselor can talk them through treatment options – for example, a risk-reducing mastectomy rather than tumor removal. “The goal is helping patients make an informed choice based on their values, priorities and medical situation,” says Geurts.
Cancer Blood Tests
Cancer screening guidelines – think colonoscopies and mammograms – are typically determined by age and risk factors. But with advanced cancer affecting more young people, early diagnosis is especially valuable. Broad-spectrum tests that target tiny molecules in the blood can identify early signs of multiple forms of cancer, potentially before symptoms appear.
Many of these blood tests can tell not just whether cancer is present but also its origin, says Walters, the Aurora precision pharmacy director. A doctor may recommend the test for someone with cancer risk factors, or when a patient requests one. If someone’s test suggests cancer is present, a doctor would refer them to a specialist for further testing to find the exact location and extent of the cancer – and, if needed, treatment.
Insurance usually doesn’t cover these early detection tests, and they can cost up to several hundred dollars out of pocket (not counting the additional testing for a positive result). While they can be helpful for early diagnosis and effective treatment, they can also give false negative and positive results, cautions Dr. Ajay Sahajpal, a surgical oncologist with Ascension Wisconsin. “For the average population without family risk, these tests aren’t ready for mass screening.”
Given the potential for inaccuracy, it’s important to follow your doctor’s guidelines for routine screening. For prevention, Sahajpal says the traditional guidelines apply: Avoid smoking and excessive alcohol use, and prioritize exercise and nutrition.
