Physician’s Frequently Asked Questions

1. What is Whole Genome Sequencing or WGS?

A doctor would refer refer someone for a whole genome sequencing test: a test that is designed to determine the entire genetic makeup of an individual by sequencing all of their DNA — three billion letters long from a blood sample. For more information about genome sequencing, click here (link to genome sequencing page)

2. How much does it cost?

We currently are not participating in any health plans. Payment for a consult is expected in full at the time of service. We will provide you a copy of our bill for your submission to the patient’s insurance company. If whole genome sequencing is ultimately recommended, it’s important to note that most health plans do not currently cover whole genome sequencing.

3. What is the expected timeline for the testing?

Whole genome sequencing is a complicated test that generates large amounts of data to be interpreted. Therefore, the test may take several months to complete.

4. What might my patient learn from whole genome sequencing?

It is possible that whole genome sequencing could identify an underlying genetic cause for your patient’s condition.  There is also a small chance that this test could reveal additional information about your patient’s health or risks for certain conditions.

5. What is the likelihood of finding a diagnosis?

Based on our experience so far, the success rate for whole genome sequencing is between 25% and 35%.  As we gain experience in using this technology and interpreting the information it provides, we expect this number to increase.

6. Will this provide a cure?

Unfortunately, it is rare that finding a genetic diagnosis leads to a cure, as it is very difficult to correct the underlying genetic change that causes a particular condition.  However, making a diagnosis can have important implications for management and risks to other family members.

7. What can I do with this information?

If a diagnosis is made through whole genome sequencing, this information may be used to inform medical decision making and may direct management.  In addition, this information may provide knowledge about risks to other family members to carry or be affected with the same condition.

8. Who has access to my patient’s information?

All information that you and your patients provide will be protected by law and kept confidential.

9. Who will be involved in my patient’s care?

Our team includes a clinical geneticist, genetic counselors, and a clinic operations administrator. Please see our clinic team page to find out more about these individuals.

10. What is the Genome Gateway?

The Genome Gateway is an electronic system that allows patients to complete paperwork, answer questions regarding their medical and family history, receive education about genetics topics, and communicate directly with our clinic team.

11. Does a clinic appointment obligate my patient to have testing?

Being evaluated in our clinic does not obligate someone to have testing.  If a particular test is recommended, we will discuss the benefits, risks, and limitations of testing, and the patient will be able to decide whether or not to have the test performed.

12. Are there any risks to having whole genome sequencing?

Most genetic variants identified pre-symptomatically are not determinative, i.e. they may not always mean that you will get a disease or predict how severe symptoms will be.  Some people respond better than others to this type of uncertainty, therefore genetic counseling is important. Additionally, the Genetic Information Nondiscrimination Act of 2008 (GINA) protects individuals from having their genetic information used against them when obtaining employment or health insurance. Protected genetic information includes family history, participation in genetic testing or counseling, and specific genetic test results. However, this protection does not apply to other types of insurance, including life insurance and long-term care policies. For more information: https://www.genome.gov/10002328

13. What does “powered by HudsonAlpha, Children’s of Alabama and UAB Medicine mean?

The Smith Family Clinic is engaged in a collaborative agreement with HudsonAlpha, Children’s of Alabama and UAB Medicine to enhance and improve the practice of genomic medicine. UAB Medicine has established an Undiagnosed Diseases Program and a clinic in the Kaul Human Genetics Building at UAB. In 2016, UAB Medicine will add a second clinic specifically for pediatric patients, which will be located at Children’s of Alabama. Sharing data and best practices among the clinical entities will improve our ability to use genomic medicine to diagnose and treat diseases.