Tests for Genetic Diseases
There are many different tests available for genetic diseases. Some people use direct-to-consumer testing to see whether they are at risk for certain genetic diseases. Genetic testing is also available through a genetic specialist or your primary care physician.
In the medical setting, your doctor will first determine if you would be a good candidate for genetic testing. People who have relatives with a genetic disease are often directed to genetic testing. There is also a counseling component, which explores what you plan to do with the results and how the results might affect you and your health.
Remember: a positive genetic test result does not necessarily mean that you have the disease now or will have it in the future. For many diseases, a positive genetic test can simply represent a higher than average risk of disease. This is especially true when looking at diseases that have environmental causes or gene-environment interactions.
Reasons for Testing
Your doctor may offer you genetic testing under certain circumstances. You could receive genetic testing because you are pregnant and want to learn more about your baby, because you have a family history of a genetic disease, or to confirm a suspicion that you have a genetic disease.
Testing and Family Planning
Some people receive genetic testing before or during pregnancy to see if they carry certain genetic variants that can be passed down to their children and cause specific diseases. People who carry the variants but do not have the disease are called carriers. They do not have the genetic disease, but if two carriers have a child together, the child could inherit the disease.
You can take a direct-to-consumer genetic test without involving your health care provider. Most testing companies require you to mail in a DNA sample. After analyzing the DNA, they will send you the results directly. It is important to consider potential effects of testing and the privacy policies of the companies offering the test.
Ancestry testing is a way to find out more about your family of origin and its history. It can be done without involving your health care provider, and is especially informative for people who do not know much about their biological family.
Privacy of Genetic Information
The Genetic Information Nondiscrimination Act (GINA)
GINA is a federal law that protects against genetic discrimination in the workplace and health insurance. It also safeguards individual and family privacy of genetic information. With new advances in science, technology, and data management, GINA plays a vital role in establishing a baseline of protection for all Americans against discrimination.
Privacy and Healthcare
Most health care providers are considered covered entities and must comply with the HIPAA Privacy Rule with regards to protected health information, including genetic information. More information about HIPAA can be found at HHS.gov.
Privacy and Research
Most research information is anonymous and only seen by those completing the research. When considering participating in a research study, be sure to ask how they will protect your genetic information.
Genetics in the News/Society
Angelina Jolie and Breast Cancer
Oscar-winning actor Angelina Jolie found out through genetic testing that she was at high risk for breast cancer. To reduce her risk of developing cancer, she decided to undergo a prophylactic bilateral mastectomy: the removal of both breasts before cancer develops. Jolie used her fame as a platform to bring awareness and advocacy to other women who are at risk for developing breast cancer.
Thanks to advances in technology, women who are thought to be at increased risk for breast cancer can participate in genetic testing to see if they carry genetic variants associated with these cancers. If they are found to carry these variants, there are many different options available to help manage disease risk and reduce the chance of developing the disease.
Removal of breast tissue is one such option. Other options, such as more frequent screenings, drug therapies, and lifestyle modifications, may be a better fit for some women. It’s important to work with your health care provider to discuss whether genetic testing is right for you and what your potential next steps would be based on the results.
Environment and Common Disease
Many diseases result from the interaction between the environment and the unique alleles that a person has. Common diseases like heart disease, diabetes, and obesity are thought to involve many different gene, environment, and lifestyle factors. You may also hear these diseases referred to as complex or multifactorial diseases.
Though complex diseases tend to be seen in several members of a family, there is rarely an identifiable inheritance pattern. It is difficult to understand and treat all of the factors that lead to a complex disease. These factors can be difficult to identify and control in an individual person Researchers are working to understand more about complex diseases to better prevent, treat, and identify them.
“Breast Cancer: The ‘Angelina Jolie’ Effect.” ScienceDaily, ScienceDaily, 14 Dec. 2016, www.sciencedaily.com/releases/2016/12/161214213749.htm.
Cancer Australia. “Angelina Jolie’s Surgery to Reduce Her Risk of Ovarian Cancer.” Cancer Australia, Cancer Australia, 25 Mar. 2015, canceraustralia.gov.au/about-us/news/angelina-jolies-surgery-reduce-her-risk-ovarian-cancer.
“Gene-Environment Interaction.” National Institute of Environmental Health Sciences, U.S. Department of Health and Human Services, 2019, www.niehs.nih.gov/health/topics/science/gene-env/index.cfm.
“Help Me Understand Genetics – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/primer#inheritance.
Observable Human Characteristics, learn.genetics.utah.edu/content/basics/observable/.
“What Are Complex or Multifactorial Disorders? – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/primer/mutationsanddisorders/complexdisorders.
“What Are the Different Ways in Which a Genetic Condition Can Be Inherited? – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/primer/inheritance/inheritancepatterns.
“What Is a Gene Mutation and How Do Mutations Occur? – Genetics Home Reference – NIH.” U.S. National Library of Medicine, National Institutes of Health, 2019, ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation.