How Probably Genetic Uses Patient Information While Remaining Confidential

March 18, 2022

Cheyanne Perry Suarez

How will my privacy be maintained? Who has access to my information? How will I view my test results? Will my results be shared with my current physician or insurance provider?

These are all common questions patients ask before pursuing genetic testing through sponsored testing programs. Probably Genetic understands that our patients are concerned about their privacy. That is why keeping patient information confidential is our priority, and we go above and beyond to ensure every aspect of our process is HIPAA compliant.

Contact Information

Probably Genetic requests basic contact information, such as an email address and telephone number, in order to notify patients when their results are in or to send them instructions on creating a patient account. On occasion, you may receive a brief call or text message as a friendly reminder to complete your intake questionnaire or to ship your test kit back to the lab in the prepaid box. For sponsored testing programs, our partners never have access to a patient's name, email, or phone number. Additionally, contact information is not universally accessible within the Probably Genetic organization, as only employees working specifically within patient communications are granted access.

Location Information

Once a test is ordered, patients must enter a physical address during the intake questionnaire. This is required in order for Probably Genetic to ship test kits directly to a patient’s home. However, a patient's location is never shared with anyone outside of the shipping process. Similarly, our partners never have access to a patient’s location. Any locations are always anonymized within the first three digits of the actual zip code to maintain confidentiality.

Family Information

Most genetic disorders are inherited, meaning they are passed through families. The intake questionnaire therefore has a section that requests the names, date of birth, and medical history of immediate family members.

This section is necessary for TRIO testing, in which both biological parents were tested along with the patient. In the case of TRIO testing, the family section is helpful for determining how likely it is that a specific mutation is disease causing. For example, if the mother and child share a particular mutation, but only one of them is symptomatic, the mutation is likely not disease causing. The names are significant as they are required in order to identify which family member each test result is relevant to.

Although details such as the full names of the patient's immediate family members are irrelevant for the sponsored testing programs, knowing the family medical history can still be important. It helps highlight specific symptoms that occur within families, and whether or not a family member passed away prematurely due to medical reasons. However, we understand that some patients may be uncomfortable sharing the names of family members or unaware of their family history; In this case, we recommend submitting “Not Applicable” in the text box for family names and a random date of birth. Test results will not be affected by omitting this information.

Physician Information

Probably Genetic asks patients to submit the names of their treating physician(s), and tests results can be sent to the physicians listed. For sponsored testing programs, it is helpful for drug developers to know which physicians are treating patients with specific conditions, in order to let those physicians know if clinical trials or approved treatments eventually become available for their patients.

Phenotypic Information

Phenotypic information is the primary information that is useful for our industry partners sponsoring free testing programs. Phenotypic information consists of the signs, symptoms, age of onset (without a specific date of birth), and progression of a disease with its associated genetic findings. Each patient is assigned an ID number that ensures phenotypic information is anonymized.

It is important to note that by participating in sponsored programs, patients are not enrolled in a drug trial or agreeing to be included in a future  trial. The goal of sponsored programs is not only to end the diagnostic odyssey by providing a diagnosis but to study their phenotypes with the goal of designing or improving treatments.

The team at Probably Genetic hopes that the detailed information above will help patients feel confident that their information will remain confidential while uncovering answers about their health.

Cheyanne is the patient community manager at Probably Genetic. She uses her own experience of living with a rare genetic condition in her patient advocacy work. After graduating with her degree in psychology, she is especially interested in the biological processes that connect physical illness and mental health.

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