FAQs: Testing and Technical Specification
Answers for patients about testing and technical specification
The best way to have genetic testing is by talking with your primary care provider about a referral to a genetics clinic or specialist. It is important to discuss the benefits and risks of genetic testing with a genetic counselor or genetics provider who will be able to explain the testing, so you can make an informed decision about whether genetic testing is the best option for you and your family.
Under the Health Insurance Portability and Accountability Act of 1996 (HIPAA), Baylor Genetics is required by law to maintain the privacy of patient health information called protected health information (PHI) and we are committed to the protection of all patient PHI.
As permitted under HIPAA, Baylor Genetics may use or disclose the PHI to an individual or entity authorized to receive or review the information for the purposes described below:
• Disclosures for treatment, payment, or healthcare operations;
• Disclosures to the patient or his/her personal representative;
• Disclosures made pursuant to an authorization;
• Incidental disclosures;
• Disclosures for a facility directory or to family/caregivers;
• Disclosures for national security or intelligence purposes;
• Disclosures to law enforcement officials or correctional facilities;
• Disclosures in accordance with established public health activities.
• Disclosures as part of a Limited Data Set;
• Disclosures of patient’s PHI which occurred more than six years prior to the date an accounting is requested.
Otherwise, Baylor Genetics will obtain patient authorization before using or disclosing PHI, where the use or disclosure doesn’t fall within an exception to the HIPAA Privacy Regulation.
This depends on the reason for testing. In general, testing minors for adult-onset diseases is not recommended since knowing the test result would not change healthcare for the child. Genetic testing in minors is appropriate when a healthcare provider is trying to identify the cause of symptoms or a disease in a child. Understanding the cause of symptoms of a disease may help determine treatment or give information about what to expect in the future.
Familial variant testing looks to see if someone else in the family has the same variant that may be associated with a disease. Sometimes this testing is done by a family member to see if they have the same variant that has been identified in their family and are at risk of having the same disease. This test requires a report with the original individual’s variant, and there is a charge for this test. Other times, Baylor Genetics may request that family members be tested to help interpret the results of another family member. This testing is performed at no charge since we asked an individual to submit a sample for testing.
Genetic testing can be ordered by your family member’s healthcare provider or genetic counselor. The best way to help your family members talk with their healthcare team is to give them a copy of your test results. Familial testing can then be performed to look for the specific variant or mutation that was identified in the family.