Genomic medicine has the potential to benefit our medical care throughout the course of our lifetimes. Genetic testing begins right at birth. Screening is done on all newborns in the first two days of life to check for serious genetic disorders. This allows early diagnosis and the delivery of appropriate care. In the pediatric setting, children with developmental problems may have testing to check for a genetic condition that explains their delays. Couples expecting a pregnancy may choose carrier screening and prenatal testing. These tests look for genetic risks that could affect their children. Adults may have testing to help diagnose genetic disease or predict whether they're affected by a condition that runs in the family. Along the way, pharmacogenomic tests may be used to help doctors choose the best drug to treat an illness and avoid dangerous side effects.
Genetic testing is a powerful tool for healthcare, but its use is not without controversy Some genetic tests can give uncertain results. A genetic change may cause a disease or be a normal variation. Scientists can't always tell for sure. In other cases, a normal result doesn't completely rule out the chance for someone to have a condition. It's important to understand the pros and cons of a test before having it done.
Genetic testing is also unique in its impact on the family. Results for one person can affect other family members who may share a genetic risk. Navigating family dynamics can be tricky. Genetic experts can help patients understand who is at risk, what testing is available, and how to approach relatives with sensitive health information.
Many people worry about how test results will affect them personally, within their families, and even within the community. Genetic conditions are often rare, so getting a diagnosis or learning about a risk may create anxiety or social stigmatization. Many people wonder about discrimination in insurance and employment. Doctors, genetic counselors, and other health professionals can help people understand and cope with the results of genetic testing. A federal law called the Genetic Information Nondiscrimination Act (GINA) passed in 2008, protecting people from discrimination by health insurers and employers on the basis of genetic information.
Doctors and patients should discuss the issues around genetic testing.Weighing the pros and cons of getting a test requires them to work as a team. For truly personalized medicine, a test has to be considered in the context of the person, the family, and the healthcare system.