Genetic Testing 101

GENETIC TESTING 101

Advances in genetics have the potential to revolutionize how practitioners diagnose and treat illness. Genetic testing can help identify specific genetic mutations that may be associated with an increased risk for certain diseases. While the ability to cure genetic disorders remains far in the future, genetic testing can provide patients with valuable information about their likelihood of inheriting or passing on faulty genes.

Genetic testing is a way to look at your DNA, which is like a set of instructions that you inherit from your parents. Scientists use special tests to see if there are any changes or mistakes in your DNA that might be related to health problems. By analyzing your DNA, they can check if you have a higher risk of getting certain health conditions, such as cancer or heart disease. This information can be used to help you make informed decisions about your health, such as whether to undergo additional screening or take preventative measures.

During a genetic test, a sample of your DNA is collected via a mouth swab or rinse. This is a painless and non-invasive procedure that can be done in a practitioner’s office. After the sample is collected, it is sent to a laboratory for analysis. The results of the test can take several weeks to come back and will be explained to you by a genetic counselor or other healthcare provider

How is genetic testing used clinically?

Pharmacogenomics

Genetic testing can be used to personalize your medication by analyzing your genetic information. This can help reduce the risk of side effects, adverse reactions, and finding the right dosage for you. By identifying which medications work best for you and which to avoid, your practitioner can help ensure that you receive the most effective treatment.

Diagnostic Medicine

Genetic testing can help determine if you have a specific genetic disease. For example, if you have a family history of breast cancer, genetic testing can identify if you have a genetic mutation that increases your risk of developing the disease. The results of the test can help you make informed decisions about your health, such as whether to undergo more frequent screening or consider preventative measures.

Predictive Medicine

Genetic testing can also help determine if you have an increased risk of developing a particular disease. Although the results are not definitive, they can provide an estimate of your risk. For instance, if you have a higher risk of developing type 2 diabetes, you can take steps to reduce your risk, such as adopting a healthier lifestyle. Genetic testing can provide valuable information to help you make informed decisions about your health and wellbeing.

Prenatal Testing

Prenatal testing is a type of genetic testing offered during pregnancy to help identify certain diseases or conditions in the developing fetus. This testing can provide important information about the health of the baby before it is born.

Newborn Screening

Newborn screening is a test performed on babies shortly after birth to check for certain diseases that can affect their health and development. This test is important because it can identify conditions early, when treatment is most effective.

Genetic Testing

Genetic testing is a type of test that can help researchers learn more about the contributions of genes to health and disease. While the results may not be directly helpful to you, they can help practitioners and researchers better understand genetic conditions and develop new treatments.

Carrier Testing

Carrier testing is a type of genetic testing that can identify if you carry a genetic mutation that is linked to a particular disease. Even if you do not show signs of the disease, you can still pass the mutation on to your children. This information can help you make informed decisions about family planning and potentially prevent the passing of the mutation to future generations.

How many different types of genetic tests are currently available?

There are thousands of genetic tests available to help practitioners diagnose and treat different diseases. Genetic testing can be used to:

Diagnose cancer and disease

Guide practitioners in deciding on the best treatment or medicine for a specific patient (also known as personalized medicine)

Identify changes in genes that are responsible for a disease that has already been diagnosed

Identify changes in genes that could increase the risk of developing a disease

Identify changes in genes that could be passed on to children

We understand that genetic test results can be difficult to understand, so we're here to help. After testing is complete, we'll connect you with a genetic counselor or geneticist who can help interpret the results. Genetic counselors are healthcare professionals who specialize in medical genetics and counseling. They can provide information and support to individuals and families who may be at risk for inherited disorders. Genetic counselors will also work with your practitioner to identify the best plan of care.

It's important to keep in mind that genetic testing results can have implications for blood relatives of the person who had testing. This means that genetic information can be shared with family members to help them understand their own risks and make informed decisions about their health. So not only can you benefit from genetic testing, but your family members can as well.

What are genetic counselors?

Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. They are an integral part of the healthcare team providing information and support to individuals and families who have members with birth defects, or genetic disorders, or may be at risk for a variety of inherited disorders. Genetic counselors also serve as educators and a resource for other healthcare professionals and for the general public.

Protection Against Genetic Testing Discrimination

Genetic discrimination is considered the differential and adverse treatment of asymptomatic individuals based solely on their or their family member’s actual or presumed genetic characteristics. As genetic tests become more readily available, the potential grows for discrimination against people based on their genetic information. Genetic discrimination and the fear of it can have negative effects on the delivery of clinical care. The Genetic Information Nondiscrimination Act (GINA), passed in 2008, protects individuals from genetic discrimination by health insurers and employers.

Title I of GINA prohibits group and individual health insurers from using a person’s genetic information in determining eligibility or premiums and prohibits health insurers from requesting or requiring that a person undergo a genetic test in order to collect genetic information on that person for underwriting decisions. Title II of GINA prohibits employers from using a person’s genetic information in making employment decisions such as hiring, firing, job assignments, or any other terms of employment; and prohibits employers from requesting, requiring, or purchasing genetic information about a person or their family members.

The AMA's Council on Science and Public Health recently examined genetic discrimination and GINA and identified gaps in protection and necessary steps toward strengthening protections. In addition, the AMA has developed a policy perspective on GINA, genetic discrimination, and needed improvements in laws protecting individuals from discrimination.

There have been a number of documented cases of people or their relatives who have lost jobs or insurance coverage based on reported genetic "abnormalities." Since the enactment of GINA’s health insurance and employment provisions, only a modest number of genetic discrimination complaints have been filed under its provisions; in 2013, 333 cases of genetic discrimination were filed out of nearly 95,000 total discrimination cases filed. It is possible that the small number of cases reflects the effectiveness of GINA at discouraging the practice of genetic discrimination in the health insurance and employment sectors, or alternatively, discrimination continues to occur but is unrecognized or unreported, possibly because awareness of GINA is low.

Besides GINA, other protections against genetic discrimination are:

Federal legislation

The first federal law to address issues relating to genetic discrimination was the Health Insurance Portability and Accountability Act (HIPAA) of 1996. The Americans with Disabilities Act (ADA) prohibits employment discrimination based on a disability, the history of a disability, or a perceived disability. However, it is not clear whether the ADA protects against genetic discrimination in employment decisions.

State legislation

Slightly fewer than half of U.S. states have laws providing additional protection against discrimination in aspects of life, long-term care, and disability insurance, as well as in other areas, that are not present in GINA. The NHGRI website provides a database of current state legislation relating to health insurance and employment discrimination as well as summaries and links to foreign laws and reports on issues of genetics.

Executive Order

In February 2000, President Clinton banned genetic discrimination when he issued Executive Order 13145 to Prohibit Discrimination in Federal Employment Based on Genetic Information. The Executive Order prohibits discrimination against any federal employee based on protected genetic information, or information about a request for or the receipt of genetic services. Similarly, internal policies of the U.S. military and the Veteran's Health Administration afford protections for these groups similar to those afforded by GINA.