Precision health: Improving health for each of us and all of us

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Your genes, behaviors (such as exercise and eating habits), and environment are all factors that affect your health. The goal of precision health is to protect your health by measuring these factors and acting on them. Interventions can be tailored to you, rather than using the same approach for everyone.

You might have heard the terms “precision medicine” and “precision health” and wondered how they relate to you. Precision medicine, also called personalized medicine, helps your doctor find your unique disease risks and treatments that will work best for you. Precision health is broader—it includes precision medicine but also approaches that occur outside the setting of a doctor’s office or hospital, such as disease prevention and health promotion activities. Precision health involves approaches that everyone can do on their own to protect their health as well as steps that public health can take (sometimes called “precision public health”).

Let’s explore how precision health approaches can better predict, prevent, treat, and manage disease for you and your family.

Prediction and Prevention

When talking about your family health history, your doctor asks if anyone in your family has had breast cancer. You mention that your mother was diagnosed at age 51. Your doctor tells you that having a parent or sibling with breast cancer makes you more likely to get breast cancer. Based on current guidelinesexternal icon, she recommends starting yearly mammograms early, at age 40.

  • Personal devices can keep track of your health information: Mobile health applications on your smart device are an easy way to track information, such as nutrition, physical activity, and blood pressure. Measurements are taken in real-time and can inform you of progress and even alert you to changes that could mean you need to seek medical care, although these devices are not a replacement for regular checkups.

Joe, an active 49 year old man with no history of heart problems, got an alert on his smartphone that he had atrial fibrillation. He went to a nearby urgent care center, where doctors confirmed that he had the condition. Left untreated, atrial fibrillation can lead to stroke. By finding out about his atrial fibrillation early, Joe could take steps to treat it before he had any serious health problems.

  • Social media can help public health workers track disease and communicate health information: Public health researchers are exploring how social media could be used to help track disease outbreaks, for example by looking for posts that self-report symptoms of a disease. Health departments can use social media to communicate important health information to a large audience.

Your state health department posts a message on social media in response to seeing an increase in the number of flu cases. The post details how to prevent the flu, what to do if you think you have it, and who is most at risk for complications. You’ve been busy and haven’t had time to get a flu shot, but seeing this post encourages you to get one the next day.

  • Genome sequencing can help find, track and control infectious disease outbreaks: The type of germ that’s making people sick can be identified using genome sequencing, which shows the DNA fingerprint of the germ. Doctors and public health officials can more easily find out which people’s illnesses are caused by the germ. Knowing exactly which germ is making their patients sick can help doctors determine the treatment that will work best. Public health workers can more accurately track the germ and find its source.

After eating at a restaurant, you and your friend have symptoms of food poisoning. You are seen by your doctor, who orders tests of your stool. When Salmonella bacteria are identified in your stool, your doctor alerts the health department. The health department then performs genetic testing on the Salmonella bacteria from your stool sample and determines that they are from a strain that matches that of several other confirmed cases in your area, all of whom reported eating papayas. Using this information, public health workers then find the source is a certain brand of papayas and remove them from grocery stores and restaurants, thereby preventing additional cases.

  • Newborn screening can find medical conditions early to prevent complications: Babies born in the United States are checked for certain medical conditions soon after birth. This is called newborn screening, which includes a blood test and screenings for hearing loss and heart defects. Newborn screening can prevent disability or death by identifying conditions and treating them sooner.

Through newborn screening, baby AnnaLou was diagnosed with a type of primary immunodeficiency called severe combined immunodeficiency (SCID). Babies with SCID can die without treatment because their bodies cannot fight infections.

  • Medical options can prevent disease in people with inherited conditions: Some people have inherited conditions that make them more likely to get a disease. Women with a BRCA1 or BRCA2 gene mutation are more likely to get breast or ovarian cancer, and men with a BRCA1 or BRCA2 gene mutation have an increased risk for some cancers as well. People with Lynch syndrome are more likely to get colorectal (colon) and other cancers. People with familial hypercholesterolemia are more likely to develop heart disease at a younger age and to die from the disease. However, if you have one of these conditions, knowing about it can allow you to take steps to prevent the disease or find it early. Medical options can include screening earlier or more often, taking medicine, or having surgery.

Zach has a family health history of Lynch syndrome. He decided to have genetic testing for the Lynch syndrome mutation that his family members have, and testing showed that he has the mutation. He is taking steps to prevent cancer and find it early if it develops, including starting yearly colonoscopies early.

Treatment and Management
  • Biomarker testing can help your doctor choose the best treatment: Biomarker testing (also called tumor profiling or tumor genetic testing) looks at genetic or other changes in solid tumors and blood cancers. Finding these changes can help doctors choose a treatment that’s most likely to work. Even if two people have the same type of cancer, they may need different treatments. Biomarker testing can also predict if the cancer is more likely to return, which can help people decide whether to have treatments, such as chemotherapy or radiation.

Tiffany has breast cancer for the second time. Biomarker testing shows she has triple-negative breast cancer. She decides to have more aggressive treatment this time, including a mastectomy (removing the entire breast and all breast tissue), radiation, and chemotherapy.

  • Pharmacogenomics can help your doctor prescribe the drug and dose most likely to work for you: How you respond to a drug is the result of many factors, including your DNA. Some people may benefit from a drug, while others may respond poorly or have serious side effects. Pharmacogenomics looks at how your DNA affects the way you respond to drugs and can help your doctor choose a drug and dose that is most likely to be safe and effective for you.

Alyssa has Tourette syndrome. Before prescribing the drug, pimozide, to treat her condition, Alyssa’s doctor orders genetic testing for the gene CYP2D6, which affects how her body breaks down pimozide. The genetic testing shows that Alyssa has a version of CYP2D6 that breaks down pimozide slowly. Thus, her doctor knows to treat Alyssa with a lower dose.

  • Continuous glucose monitoring systems can improve insulin dosing: Regular monitoring of blood sugar is key to managing diabetes with insulin. Continuous glucose monitoring systems use sensors on the arm or stomach to constantly monitor blood sugar. Their use can improve insulin dosing, prevent complications, and allow users to share results with their doctors.

Anthony’s type 1 diabetes isn’t under control. He doesn’t check his blood sugar levels regularly with his fingerstick device, and finding the right insulin dose for him has been challenging. His doctor recommends using an arm sensor to measure his blood sugar. Using information from the monitor helps his doctor find the right insulin dose and helps Anthony see how his blood sugar levels change in response to what he eats and how active his is. After a few weeks, Anthony’s blood sugar levels have stabilized, and his diabetes is well managed.

  • Mobile devices can support healthy living and improve chronic disease: Personal devices can monitor behaviors, such as your activity, diet, and sleeping habits. They can also help remind you to take medicine, practice mindfulnessexternal icon, and attend regular checkups and cancer screenings.

Juan has poorly managed heart disease and diabetes. He tells his doctor he doesn’t always remember to take his pills and isn’t keeping up with a healthy lifestyle. His doctor recommends that he try using smartphone applications as a daily reminder to take his pills, eat healthier, and exercise. Since doing so, Juan’s blood pressure levels are in a healthy range, and he has lost weight.

You can be a part of precision health research:

To fulfill the promise of precision health, much more research is needed. The All of Us research program, led by the National Institutes of Health, has begun enrolling participants and plans to enroll one million or more U.S. participants, who will be followed for several years. All of Us participants answer surveys on different topics and share their electronic health records. Participants may provide blood, urine or saliva samples for lab and DNA tests. All health information is stored in a secure database. All of Us researchers are using this information to look at how genetic, behavioral, and environmental factors can affect health, including likelihood of getting certain diseases and effectiveness of interventions. Having a wide variety of participants for this study is important to make sure it benefits everyone—find out how you can participate.