Genetic Testing FAQ

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What is genetic testing? How is it performed?

Genetic testing examines your DNA, in order to reveal changes (mutations) in your genes that may cause illness or disease. It can provide important information for diagnosing, treating and preventing illness, though there are still some limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result does not guarantee that you won't have a certain disorder. A genetic counselor can provide more information about genetic testing. To perform genetic testing, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis.

You can contact our genetic counselors at cpmg_gc@cumc.columbia.edu. For more information see Who are Genetic Counselors?

What are the potential impacts of a genetic diagnosis?

Indentifying the origin of a patient's disease.
Change patient's care and guide choice of therapy. For example, initiate a referral to a specialist and increase surveillance.
Identify other organ anomalies.
Family counseling (for relatives at risk of having or transmitting the disorder).
More medical workup (additional tests can be required to validate the genetic diagnosis).
Incidental findings (risk for diseases unrelated to the primary purpose of the test).
Anxiety related to uncertainty of genetic findings.
Participation in targeted clinical trials.

What types of genetic tests are there?

There are three general types of genetic tests: Direct-to-consumer tests, medical tests (clinical genetic testing) and genetic tests performed as part of research. Depending on your needs, different types of tests may be more appropriate.

Below is a table comparing these three types of tests.

Key Aspects	Direct To Consumer (DTC) Genetic Testing	Clinical Genetic Testing	Research Genetic Testing
Purpose	Elective (ancestry, paternity, health)	Diagnostic based on clinical indications (medical management, family counseling)	Research and Discovery based on research goals
Return of Results	Directly to client. Variable clinical support and counseling	Professionally trained health care providers.	Depends on the research protocol
Test selection	By consumer	By Healthcare Provider	Depends on research protocol
Data Interpretation	Depends on company protocol	Accredited or licensed HCP/ lab director.	Unlicensed researcher
Source of Regulation	FDA (Rarely CLIA/CAP)	CLIA CAP and/or FDA	Institutional Review Board
Cost Coverage	Patient covers cost	Insurance may cover cost	Research funding source

What is precision medicine?

Precision medicine is an extension of traditional approaches to understanding and treating diseases. It incorporates each person’s unique genetic, environmental and demographic profiles in order to offer tailored recommendations/strategy for their healthcare.

What is a Genetic Counselor?

Genetic counselors are healthcare professionals who discuss options of genetic testing with individuals and their families. Genetic tests are usually requested by a person's doctor, or other healthcare provider who has reviewed the individual's personal and family history. Following testing, genetic counselors inform patients and their doctors about medical, psychological, and reproductive implications of the genetic results.

You can contact our genetic counselors at cpmg_gc@cumc.columbia.edu. For more information see Who are Genetic Counselors?

Should I be tested?

Even if you do not have a diagnosis, pursuing genetic testing may be an option. Sometimes, genetic testing can help to provide you with a diagnosis, and guide your future medical management. If appropriate and available, your doctor and genetic counselor will work together with you to decide what type of genetic testing you could have and discuss the risks and benefits of such testing with you.

Because we share a large amount of our genetic material with our relatives, family members may be at an increased risk of having the same genetic change as you do. Therefore, it may be important for certain family members to be tested if you have been diagnosed with a genetic disorder. Please speak with a genetic counselor to help determine what type of testing is recommended for your relatives.

Is testing covered?

Our genetic counselors can help to answer this question. In many cases, health insurance pays for certain genetic testing when it is recommended by a doctor, however it depends on the insurance plan.

Should I consider privacy and confidentiality when it comes to genetic testing?

When the test is done in a clinical setting, genetic results are placed in the patient’s medical records. Therefore they may become known to other people or organizations that have legitimate, legal access to the medical records, such as their insurance company or employer (if their employer provides the patient’s health insurance as a benefit).

However, legal protections prohibit health insurance companies to treat people differently because of their gene change that increases their risk of a disease or because they have a strong family history of a disease. You can read more on the U.S. Equal Employment Opportunity Commission website:

Genetic Information Discrimination

How can I make an appointment?

See our Clinical Services to find out how to make an appointment.

What is research and how is that different?

Simply put, research involves human participants and helps translate basic research (done in labs at the bench) into new treatments and information to benefit patients.

Our genetic research studies aim at identifying new genes and genetic factors associated with diseases. While participants can opt-in for the return of genetic results, the time-line for such results to be returned is unpredictable. In addition, when researchers do not identify the cause of the disorders, they do not inform participants, as they continue searching. We usually invite patients to enroll into our studies regardless of their decision to do a clinical genetic test.

How will I benefit from genetic research?

Most of the time, people do not directly benefit from participating in research studies. However, sometimes we learn information that is helpful for our participant’s treatment or medical management. We make every effort to give this information when it is available. Participating in a research study contributes to our knowledge about certain conditions and helps to improve healthcare for future generations: for your kids, for grandchildren of your friends, for great-grandchildren of your neighbors. It takes time, effort, and we appreciate it enormously and are very grateful for your support!