For Patients

Frequently Asked Questions

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What is genetic testing?

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. More than 4,000 genetic tests are currently in use, and more are being developed.

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What are whole exome sequencing and whole genome sequencing?

Determining the order of DNA building blocks (nucleotides) in an individual’s genetic code, called DNA sequencing, has advanced the study of genetics and is one technique used to test for genetic disorders. Two methods, whole exome sequencing and whole genome sequencing, are increasingly used in healthcare and research to identify genetic variations; both methods rely on new technologies that allow rapid sequencing of large amounts of DNA. These approaches are known as next-generation sequencing (or next-gen sequencing).

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What are secondary findings?

Secondary findings are genetic test results that provide information about changes (variants) in disease genes unrelated to the primary purpose for the testing. Secondary findings include predictive variants that indicate a high risk for future illness.

When a clinician orders a genetic test to discover the genetic cause of a particular condition, the test will often sequence one or a few genes that seem most likely to be associated with that individual’s set of signs and symptoms. However, if the individual’s signs and symptoms do not have an obvious genetic cause, a clinician might order a test that sequences all of the pieces of an individual’s DNA that provide instructions for making proteins (called an exome) or a test that sequences all of an individual’s DNA building blocks (nucleotides), called a genome. These tests are called whole exome sequencing and whole genome sequencing, respectively. Because they examine as many genes as possible, exome and genome sequencing are likely to yield secondary findings.

What is GINA and how does it protect me against genetic discrimination?

You have some protections against genetic discrimination.

The Genetic Information Nondiscrimination Act of 2008 (GINA) was designed to protect you and your genetic information from being used in employment decisions and when determining your eligibility for medical insurance. In other words, your genetic information cannot be held against you regarding your job or being hired for a job, or in receiving medical insurance.

However, GINA does not offer protection in all cases. For example, if you undergo genetic testing for conditions such as Alzheimer’s disease or Huntington’s disease and have a positive result, you may have problems purchasing life, disability or long-term care insurance, or receiving coverage. While GINA protects most employees, it does not protect you if you work for a company with 14 or fewer employees.

Learn more about GINA through the following resources:

Resources For You

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Medical Genetics Clinic at the Waisman Center

The Waisman Center Medical Genetics Clinic is a partnership with UW Health and the American Family Children’s Hospital. The Medical Genetics Clinic is an interdisciplinary clinic for people of all ages who have suspected or known hereditary conditions, malformation syndromes or birth defects. Medical geneticists and genetic counselors provide initial diagnostic/confirmatory services, care coordination, and counseling and referral.

Genetics Home Reference

Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health.

 

Genetic Alliance

Individuals and families need and deserve opportunities to be active participants in health, from services in traditional health settings to groundbreaking research endeavors.

Genetic Alliance is resolute that people come first. We partner with individuals and communities to transform health systems to respond to what people most need.

We convene powerful networks, deliver actionable information, build intuitive tools, and drive policy decisions.

National Organization of Rare Disease (NORD)

If you live with a rare disease, or love someone who does, NORD is here to help you. For more than 30 years, we have been providing services for patients and their families, rare disease patient organizations, medical professionals, and those seeking to develop new diagnostics and treatments. We are here to support every member of the rare disease community with programs and services focused on one ultimate goal: to improve the lives of individuals and families affected by rare diseases.

Syndrome without a name (SWAN)

It is estimated that around 6,000 children are born every year with a syndrome without a name (SWAN). Our Big Ambition is that every family affected by a syndrome without a name has the support they need, when they need it, regardless of whether they have a diagnosis or not. We want it recognized that being undiagnosed is not always a temporary stage; the genetic cause of some conditions may never be known. We want every child and young adult with a syndrome without a name to receive high-quality coordinated care and support, both in hospital and at home.