Luckily for all of us, science and medicine are constantly advancing. One of the areas of advancement that’s especially exciting is known as “precision medicine.”
Medicine isn’t one-size-fits-all, but precision medicine takes that fact a few steps further by accounting for the differences between each person. In this article, you’ll learn more about what precision medicine is, why it’s so important, how genetic testing relates to precision medicine, and even a few facts that may surprise you about genetic testing and precision medicine.
Why is precision medicine so important?
According to the Precision Medicine Initiative, the goal of precision medicine is to prevent and treat disease by accounting for each individual person’s genes (sections of their DNA), environment, and lifestyle.1 By understanding each of these factors in each person, healthcare providers can develop more specific and personalized prevention or treatment plans. Instead of getting a blanket treatment for all, you can be more confident that your treatment plan is most appropriate for your personal situation, background, and body.
Cancer is a disease state that’s already shown great promise in the field of precision medicine, from prevention to diagnosis to treatment.2 But even beyond cancer, there’s so much more potential.
5 Need-to-Know Facts about Precision Medicine and Genetic Testing
- Genetic testing is closely tied to precision medicine.
Because a significant portion of precision medicine involves understanding a person’s genes — their DNA — genetic testing is critical to the field of precision medicine. Your genes determine important aspects of you, like your appearance, your mannerisms, and even what types of conditions or diseases you might be more likely to develop.
Your genes can also influence how your body reacts to certain medications or how quickly or slowly your body breaks down certain medications. Having genetic testing done can help your healthcare providers predict how you will respond to certain medications, and can be especially helpful in older age.3
Genetic testing looks for changes — or mutations — in your DNA. According to the CDC, genetic testing can give you information about4:
- Genetic conditions that run in your family
- The chances of a future pregnancy having certain genetic conditions
- Your cancer risk and potential prevention or treatment plans
- Genetic testing can improve health for Black communities.
Genetic testing can guide preventive care (like screenings), treatment decisions, and optimal medication prescribing. Examples of specific genetic tests that are especially relevant for Black communities include those for sickle cell disease testing, breast cancer, and colorectal cancer. These are especially relevant because these conditions either affect Black populations more or Black populations tend to have worse outcomes.
NOWINCLUDED is committed to partnering with organizations that can leverage the power of genetic testing for the overall benefit of Black communities. One important example is the Information is Power cancer screening campaign that NOWINCLUDED supported in order to increase the number of Black individuals who understand their genetic risk for certain cancers.5
The National Institutes of Health (NIH) All of Us research program is another example of a program that is diverse and inclusive of all people in efforts to advance precision medicine. And a major benefit is that the information collected doesn’t only serve the researchers. It is given back to the participants so that they have an understanding of their own genetic profiles.6 For example, participants received reports regarding their own health-related genes, including a Medicine and Your DNA report on 7 genes that influence the way their bodies process medications.
- Genetic testing comes in many different forms, and you can choose what feels right for you.
There are lots of different genetic tests and getting one genetic test or some genetic tests doesn’t mean you have to get all of them. What you need may vary depending on your health status, your family history, and your specific concerns on interests.4
For example, the test for sickle cell disease is a single gene test.4 That means the test is only looking at one specific gene of interest.
A genetic test that looks at multiple genes in a single test is known as a panel test. Examples of panel genetic tests are ones that evaluate risk of epilepsy, breast cancer, or colorectal cancer, as well as prenatal testing.7
- Genomic testing is different from genetic testing, but is also relevant to precision medicine.
Genomic testing sounds like genetic testing but is actually a separate field. You may have heard of the human genome, the collection of all 25,000 genes that make up the human body. A genomic test is a larger scale genetic test that looks at all your DNA, including all the genes in your body.4,8
Whereas genetic tests look for mutation in specific genes, genomic testing looks for mutations throughout all a person’s genes. Genomic testing is often performed on cancers to detect mutations in the cancer cells, but can also be conducted on blood samples.8
- Providing samples to legitimate sources is safe.
When you have genetic testing done, the lab will need a sample to perform the test on. This could be a blood sample, a tissue sample, or a saliva (spit) sample.4 Providing samples to legitimate sources — like your doctor’s office or a lab that your healthcare provider directs you to — is safe, and there are a few protections in place to help ensure that.
You may have heard of the law called HIPAA, short for the Health Insurance Portability & Accountability Act. Since 2013, genetic information has been included in what HIPAA refers to as protected health information (PHI).9 This means that genetic information a healthcare provider has is protected under HIPAA. In this case, genetic information refers to evidence of disease in a family member, as well as results from10:
- Your own genetic tests
- A family member’s genetic tests
- Genetic tests on your, or a family member’s, fetus or embryo
Your genetic information may be used or shared for the purposes of treatment, payment, and operations or administrative tasks. Beyond this, with the exception of special cases like law enforcement requests, your providers may not disclose your genetic information without your permission.10
The Genetic Information Nondiscrimination Act (GINA) protects against employer discrimination based on genetic information. Specifically, the law says that employers with more than 15 employees aren’t allowed to use a person’s genetic information to influence hiring, firing, or promotion decisions. More broadly, employers are also not allowed to buy genetic information.11,12
Laws like the American with Disabilities Act (ADA), the Affordable Care Act (ACA), and some state laws also offer additional protections for genetic information.13
Not everyone needs genetic testing and whether or not you do will depend on your own medical status, your personal medical history, and your family history. Talk to your doctor about the pros and cons of genetic testing for you.
- National Institutes of Health. The Precision Medicine Initiative. https://www.nih.gov/sites/default/files/research-training/initiatives/pmi/pmi-infographic.pdf
- American Cancer Society. Precision or Personalized Medicine. https://www.cancer.org/treatment/treatments-and-side-effects/treatment-types/precision-medicine.html
- Health IT Analytics. Why Genetic Testing Is Key to Advancing Precision Medicine. https://healthitanalytics.com/news/why-genetic-testing-is-key-to-advancing-precision-medicine
- Centers for Disease Control and Prevention. Genetic Testing. https://www.cdc.gov/genomics/gtesting/genetic_testing.htm
- Kailos / NOWINCLUDED. Information is Power.
- National Institutes of Health: All of Us Research Program. Core Values. https://allofus.nih.gov/about/core-values
- Harvard Health. Tempted to have genetic testing? First ask why. https://www.health.harvard.edu/blog/tempted-to-have-genetic-testing-first-ask-why-202108172571
- Dana-Farber Cancer Institute. What is Genomic Testing? https://blog.dana-farber.org/insight/2018/11/what-is-genomic-testing/
- Compliancy Group. HIPAA Genetic Information. https://compliancy-group.com/hipaa-genetic-information
- Electronic Frontier Foundation. Genetic Information Privacy. https://www.eff.org/issues/genetic-information-privacy
- Department of Health and Human Services. Genetic Information. https://www.hhs.gov/hipaa/for-professionals/special-topics/genetic-information/index.html
- National Human Genome Research Institute. Genetic Discrimination. https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination
- National Library of Medicine: National Center for Biotechnology Information. Confidentiality & the Risk of Genetic Discrimination: What Surgeons Need to Know. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568442/