Loading
Referral Line 800-216-5556 | Text Size: View larger font-size View regular font-size

Frequently Asked Questions About Genomic Medicine

Last Updated Monday, April 14, 2014 11:38:05 AM


Who should have Genetic or DNA tests?

Who can be tested?

How does my doctor determine if I need a test?

How is a test requested and DNA collected?

Does DNA Direct do the actual testing?

What is a genetics professional?

How long does it take to get results?

How accurate are the tests?

Do I need a referral/prescription from a specialized doctor to get tested, or can I request one myself?

How do I decide that I need to get genomic testing? Do I need to see a genetic specialist or genetic counselor?

What happens to the data? Who owns it? Who can access it?

How much does genomic testing cost, and will my insurance company pay for it?

Will my insurance company have access to my genomic data?

Can my insurance company deny me coverage based on the results of my genomic testing?

What are the benefits of genomic testing? What things can genomic testing identify?



Who should have Genetic or DNA tests?

This is a complex question that can be answered only by a patient in collaboration with a physician. Both patient and physician can also benefit from a consultation with a professional genetic counselor or MD-geneticist. People use genetic testing for several reasons. Prospective parents may want to be tested for genetic mutations that could cause genetic diseases in their children. Before prescribing certain drugs, physicians use tests to predict how a patient will metabolize that medication and whether that patient is likely to experience serious side effects. In the case of certain cancers, oncologists can test to know which therapies may be most effective for a particular patient. People with genetic diseases in their family history may benefit from knowing their likelihood of inheriting that disease. Testing DNA is a useful diagnostic tool in treating children who develop serious conditions that defy diagnosis.


Who can be tested?
Anyone, of any age or gender, can have genetic testing. When DNA tests are used to make medical care decisions, however, they must be ordered by a licensed physician or other medical professional working under his or her supervision. This is standard procedure for most laboratory tests.

Recently, direct to consumer genetic testing has become popular with people who wish to learn more about their genetic makeup. These tests can be ordered currently without a physician’s prescription, by anyone 18 years or older. With the consent of their parent or guardian, even minors can have these kinds of DNA tests. This practice has attracted the scrutiny of both state and federal agencies. With passionate support from consumer advocates on the one hand and condemnation from many in the established medical community on the other, direct to consumer DNA testing remains controversial. As of this writing, the FDA is evaluating the practice and it is not known how consumer genetic testing firms may be regulated in the future.

Some of the leading Direct to Consumer (DTC) firms are here in Silicon Valley and engage in a regular dialogue with both the GMI and many of our physicians. They are anxious to forge better relationships with the medical community even as they maintain their strong consumer advocacy focus.


How does my doctor determine if I need a test?
It depends on what the test will be used for. As mentioned above, prospective parents, often in consultation with an OB/GYN, may want to be tested before trying to get pregnant, especially if serious genetic diseases run in the family. However, many people can carry a rare genetic mutation and be totally unaware of it until they have an affected child with another carrier. For this reason, some doctors recommend pre-conception testing for all couples.

It has long been known that some drugs are effective for some people but not for others. Or, a drug that is well-tolerated by one person will cause a rare, dangerous side effect in another. The new science of “pharmacogenomics” uses genetic testing to predict how a patient will react to certain drugs: this type of testing is part of the reason genomics is often referred to as “personalized medicine.” Nearly all oncologists will consider genetic testing before determining the right course of chemotherapy, and cancer patients would be wise to request a dialogue if their oncologist doesn’t offer it. Another class of drug which some physicians prefer to test for before the patient begins therapy is anti-coagulants (blood thinners). However, the science behind such testing is still not well-established, and conflicting studies give physicians reason to be cautious.

Family history is always a strong determinant when testing for a patient’s predisposition to serious conditions such as cancer and heart disease. But the field is still evolving, and any two physicians with similar training and experience may come to different conclusions about the benefits of testing. We encourage patients to educate themselves so that they can engage their physicians in a dialogue about genetic testing. Both parties may benefit from additional consulting with an MD-geneticist or a certified genetic counselor.


How is a test requested and DNA collected?
Usually, a physician or someone under his or her supervision orders DNA tests. Your doctor may also recommend genetic counseling prior to and after the test. Counseling can often provide more information about exactly what the test can and cannot reveal and the potential consequences the results could have on a person’s treatment and state of mind. Sometimes, test results impact family members who may become concerned about their own genetic predisposition to disease.

There are several ways your genetic sample may be collected. Generally, blood or saliva samples are taken, although biopsied tissue may be tested as well, especially in the case of cancerous tumors. Some genetic testing companies send a saliva sample kit to your doctor’s office or, in the case of the consumer genetic firms, directly to your home. If a blood sample is preferred, the doctor might draw it in his or her office or send you to a draw station at the hospital or at an outpatient facility, such as Quest or LabCorp.


Does DNA Direct do the actual testing?
DNA Direct is NOT a laboratory and does not perform genetic testing. The company’s role is that of an objective advisor, providing educational materials and genetic counseling on behalf of El Camino Hospital and its patients. DNA Direct knows which laboratories perform which tests, what tests generally cost, and what documentation you and your doctor may need to get the test pre-authorized for payment. Learn more about our partnership with DNA Direct.


What is a genetics professional?
Genetics professionals are health care providers with specialized degrees in medical genetics and genetic counseling. Some geneticists are trained primarily as scientists who study the human genome in a research laboratory and/or teach genetics. Others are trained as physicians and go on for advanced fellowship training in genetics. If your primary care physician wants you to consult a geneticist, your best option is generally a board-certified MD-geneticist.

Genetic counselors are generally masters-level trained professionals and may support both families and physicians. They provide services such as:

  • Identifying families who may be at risk for genetic diseases.
  • Helping families interpret information about a genetic disease and analyzing inheritance patterns and risks of recurrence.
  • Reviewing available options with both the treating physician and the family.
  • Serving as patient advocates and helping patients with the psychosocial issues that often accompany medical genetics.

Genetic nurses are registered nurses with special training in genetics. They may take detailed family histories, assess hereditary and nonhereditary risk factors related to genetic diseases, provide genetic information to families, interpret DNA tests and laboratory data, and care for at-risk patients and their families.


How long does it take to get results?
Genetic counselors can help estimate the wait time for any particular genetic test. Turnaround time is generally longer than for other tests—usually one week or more, though technology improvements are helping to bring down the wait time. Point-of-care products (where your doctor can run some genetic tests while you wait) are already in the beta-test phase.

Genetic tests are very complex and require stringent quality control. Some require quite a bit of preparation. Others test for multiple gene mutations; in some instances, the entire genome may be sequenced.


How accurate are the tests?
The accuracy of genetic testing is measured in two ways:

  • Analytical validity refers to how well the test predicts the presence or absence of a particular gene or genetic change.
  • Clinical validity refers to how well the genetic variant being analyzed is related to the presence, absence, or risk of a specific disease.

Laboratories that perform genetic tests are subject to federal regulatory standards called the Clinical Laboratory Improvement Amendments (CLIA), as well as to state requirements that may be even stricter. CLIA standards ensure analytical validity, but they do not necessarily address clinical validity. Your doctor and/or genetic counselor will generally look at the science behind a particular test before they decide it is clinically valid. During the counseling process, they will often share their opinions regarding the validity and usefulness of a specific genetic test. For example, the BRCA test for breast cancer is well-accepted among doctors as clinically valid. Many feel differently about other genetic tests, especially where the science is very new.


Do I need a referral/prescription from a specialized doctor to get tested, or can I request one myself?
Right now, generally yes. Most traditional genetic tests used to diagnose disease, screen for carrier status, or predict drug response require a doctor's prescription.

This situation remains fluid however, as consumer advocates argue with the medical establishment over who has the right to order tests and federal regulators try to find a middle way that protects consumers without stifling a robust new industry. Increasingly, the industry itself is trying find a balance. Counsyl, for example, initially marketed its “pre-conception” panel of more than 100 tests for genetic disorders directly to the consumer. Today, these tests are only available through physician practices.



How do I decide that I need to get genomic testing? Do I need to see a genetic specialist or genetic counselor?

Whatever your reason for pursuing genetic testing, it is helpful to talk to a professional first. Genetic counselors are probably the best place to start. They can tell you whether the information you want can even be acquired through genetic testing. As patient advocates, they can explain the medical, financial, and psychosocial ramifications of ordering the test. They may suggest you consult with a physician first, especially if the test you want requires a physician’s order. Of course, you can always decide on your own whether you care to pursue direct-to-consumer testing.


What happens to the data? Who owns it? Who can access it?
A genetic test ordered by your physician is treated the same as any other laboratory test—the result and its interpretation is personal health information and may not be shared with others without your permission. But if you elect to seek reimbursement for the test, you have then given permission to share that information with the insurance company. Even if you do not seek reimbursement, you may be required to divulge genetic test results. If you apply for life insurance, for example, the insurance company may ask to look at your records before making a decision about coverage.

The Genetic Information Nondiscrimination Act (GINA) protects individuals from genetic information discrimination in health insurance (as of May 21, 2009) and in employment (as of November 21, 2009). The protections of GINA do not include protections from genetic discrimination in life insurance, disability insurance, or long-term care insurance, however.


How much does genomic testing cost, and will my insurance company pay for it?
A genetic counselor can help determine whether your test is likely to be reimbursed by insurance and if not, what it will cost you. The cost of genetic testing can range from less than $100 to more than $5,000, depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result.

In many cases, health insurance plans will cover the costs of genetic testing when a person’s doctor recommends it. Health insurance providers have different policies about which tests are covered. A person interested in submitting the costs of testing may wish to contact his or her insurance company beforehand to ask about coverage.


Will my insurance company have access to my genomic data?
If you file for reimbursement for your genetic test, your insurance company will know you had the test, but will not know the result. However, that information will be in your medical record and if you later want to purchase life or long-term care insurance, the insurer may request access to your records before it agrees to cover you. The Genetic Information Nondiscrimination Act (GINA) was designed to prohibit discrimination in employment and health insurance activities only. And even in those areas, there are exceptions. GINA does not apply to members of the U.S. military, veterans getting care through the VA, or the Indian Health Service. Furthermore, GINA does not apply to the Federal Employees Health Benefits Plans. For more detailed information about GINA visit the nonprofit health advocacy organization's Genetic Alliance website.

Most genetic counselors know the ins and outs of GINA, and they can help you understand the risks and benefits of having your genetic test information documented in medical records and claims files.


Can my insurance company deny me coverage based on the results of my genomic testing?
As of May 21, 2009, the Genetic Information Nondiscrimination Act (GINA) protects individuals from genetic information discrimination in health insurance. Under GINA, health insurers may not use genetic information, whether collected with intent or incidentally, to make enrollment or coverage decisions.

Also, keep in mind that GINA does not apply to an individual’s “manifested” disease or condition—a condition from which an individual is experiencing symptoms, is being treated for, or that has been diagnosed.

The regulations for enforcing GINA are only now being drafted, and consultation with a genetic counselor is recommended.


What are the benefits of genomic testing? What things can genomic testing identify?
The benefits of genetic testing can generally be divided into two areas:

  • Tests that help a person anticipate conditions for which they or their offspring may be at risk.
  • Tests that help a patient and his or her physician decide on the best course of treatment for a particular condition.

Since genomic research is very new, definitive benefits are a source of great debate and opinion. A test such as the one that identifies the BRCA1 and 2 mutations for breast and ovarian cancer is universally considered of great predictive value, and patients who test positive are urged to consider prophylactic measures. Another useful test for cancer risk is the one for hereditary nonpolyposis colorectal cancer (Lynch Syndrome).

Other tests, especially those that identify predisposition to chronic diseases such as diabetes or hypertension, are considered far less predictive. Patients who test positive for these genes will likely be counseled to make the healthy lifestyle choices they have already been urged to make by their physicians.

Patients are advised to do their homework and consult credible sources, including the El Camino Hospital Web site. The Federal Government has excellent web resources as well, such as the National Institutes for Health and the Centers for Disease Control.

Researchers make discoveries daily, and new studies occasionally refute older ones that once looked promising. Whether a particular test will have value for you is a determination you will have to make in collaboration with your doctor and perhaps a genetic counselor
 

Genomic Medicine Institute Tools

Click this button to visit the Family Medical History Tool
Click to visit the dnaDirect Medco Patient Portal
Click this button if you are a physician

When you click these buttons, you will be taken to a website portal managed by our partner, DNAdirect. Read more about our partnership.

Logo of DNAdirect