Genetic testing: How to get it, coverage, and privacy concerns

Aisha Langford

The Affordable Care Act (ACA), also known as Obamacare, expanded health care coverage for Americans and made many services available to patients without copays.

One of these services is genetic testing for women with BRCA1 and BRCA2 gene mutations, which put women at a higher risk for developing breast and ovarian cancers. The ACA now requires insurance to cover screening and counseling with no cost sharing.

Find out what a clinical genetic test is, who should get one and how to work with a genetic counselor.

What are genetic tests?

Genetic tests are medical tests that identify changes in your genes. These tests help your health care provider confirm a health condition or rule out a genetic condition.

During these tests, medical professionals will take samples of your blood, saliva or tissue. The results can provide information about your chance of developing a health condition such as cancer or passing on a genetic disorder such as Huntington’s disease to children.

Newborn screening is a common form of genetic testing and is routinely covered by health insurance. The purpose of newborn screening is to determine if missing or abnormal genes in a baby may cause a disease or condition later in life.

If you’re pregnant, you may choose to have prenatal genetic testing to know if your unborn child will have a genetic condition.

There are two main types of genetic tests:

• Clinical genetic tests are ordered and interpreted by a qualified health care provider (covered by health insurance).
• Direct-to consumer genetic tests can be purchased without a health care provider (not covered by health insurance).

Why should you get a genetic test?

Consumers may wonder why they should get a genetic test — and whether it should be a clinical or direct-to-consumer test.

“Validated clinical genetic tests can help patients make important decisions about their health,” says Dr. David Flannery, a board-certified medical geneticist and medical director for the American College of Medical Genetics and Genomics (ACMG).

For example, all men and women have the BRCA1 and BRCA2 genes — so we’re not testing for the presence of the genes. It’s the changes in the genes that are important and may impact how you and your doctor monitor your health, Flannery says.

ACMG recommends that all genetic testing protocols meet these requirements:

1. A knowledgeable professional is involved in ordering and interpreting the genetic test.

2. The consumer should know the limitations of the test.

3. The scientific evidence for the test is clearly stated.

4. The testing laboratory is accredited by the Clinical Laboratory Improvement Amendments (CLIA), the state, or another applicable accrediting agency.

5. Your privacy concerns are addressed, such as who will have access to the results and what will happen to the DNA samples once the genetic test is completed.

What is genetic counseling?

Some diseases, such as cancer and heart disease, run in families. Genetic counseling offers a chance to talk with a trained health professional, such as a certified genetic counselor, about your family health history and personal health history. The professional will help you decide whether genetic testing is appropriate.

“During a counseling session, we’ll draw out a family tree and look for patterns of disease,” says Joy Larsen Haidle, a genetic counselor and president of the National Society of Genetic Counselors.

If you know a certain disease or condition runs in your family, your genetic counselor will want to know how many family members had the condition and the age at which they were diagnosed. From there, you may be referred to get a genetic test.

If the genetic test identifies a mutated gene, it’s ideal to have other family members undergo genetic testing as well to see if they have the same mutation.

“This isn’t always possible because family members may be unwilling, adopted or dead,” Haidle says. If family members are open to genetic testing, their health insurance company will often pay for the cost of the tests, but every company is different.

It’s important to consider what you will do with the information learned from a genetic test. Some patients simply want to know their risk.

Other patients will opt for screenings more often and at an earlier age, while others may choose to take medications or get surgery to reduce their risk — for example, a double mastectomy in the case of breast cancer. These are important and often difficult decisions. A genetic counselor can help you consider your options and feelings.

How you’re protected against genetic discrimination

Genetic discrimination is when employers or health insurance companies treat people differently based on genetic information.

In 2008, the Genetic Information Nondiscrimination Act (GINA) was passed and provides federal protection from genetic discrimination in health insurance coverage and hiring and promotion practices among employers.

To learn more about genetic testing or find a genetic counselor, visit the National Human Genome Research Institute or the National Society of Genetic Counselors.

To find a medical geneticist or locate a genetics clinic near you, visit the American College of Medical Genetics and Genomics website.