FAQs for Parents & Caregivers

Since the ABGS screen looks at a child’s genes, we need a source of DNA.

There are several possible ways to sample, each with pros and cons. Our team is weighing these factors to decide what is the best option for ABGS. A blood sample gives the best quality DNA but uses a needle stick and tube to draw the sample. Another option for blood is to prick the finger to obtain dried spots of blood. This dried spot will be collected on a special card that can store this spot. A third option is to collect saliva (spit) or swab of the inside of the cheek. This option might be easier but has a higher chance of needing a repeat sample. We are also considering doing ABGS sampling alongside other routine testing. Examples of this routine testing are blood-related screenings, such as iron and lead level testing.

We are discussing the best way to collect samples with providers, parents and caregivers. Everyone’s feedback is important to how ABGS will be done.  

For the current research study, we would only be collecting one sample. If ABGS becomes a part of regular care, multiple samples would be collected from children as they grow up.  

We are thinking about what methods should be used to do genomic screening throughout a child’s life in the future. One way would be to ask for permission to use dried blood spots from the state newborn screening program. Another method would be to create a central biobank of DNA samples for children in the program. We could then screen these stored samples at the right times, with consent of a parent or caregiver.  

All interested parties will be considering ease, access, cost, and other factors with each of these methods to find the best option for the future. 

Right now, newborn screening in North Carolina checks for severe and life-threatening genetic diseases. These diseases include some metabolic disorders where the body cannot break down protein or fat properly. This early detection of conditions in newborns allows for effective treatment.  

ABGS will build on newborn screening to look for other severe genetic disease that may appear during childhood. These would be diseases that we could treat if we found them earlier. Deciding which diseases to screen for is an ongoing process of the study. A full list of conditions will be available during the pilot of ABGS in 2025-2026. Some examples of diseases include Marfan syndrome, Wilson disease, and Familial Adenomatous Polyposis.   

A positive/abnormal result means that it is very likely a child will develop a screened condition. We expect that fewer than 1 out of every 20 children will have a positive/abnormal screening result. This estimate is because ABGS is designed to check for rare genetic conditions.

There will be no charge to parents or children to participate in this research study. Our study’s funding from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) will cover the costs of genomic screening.  

A child will need additional follow-up care if they have a positive/abnormal screening result for a certain genetic condition. This care is designed to prevent the poor health outcomes caused by that condition. The child’s insurance would have to cover this additional health care, as it would be if the condition were to be found after onset of symptoms. 

You can get copies of your child’s ABGS screening panel results from the provider who orders it. Our research team will be able to provide a copy of our research report to you for long-term records. If the clinics in the pilot have electronic health records, the results can be entered into the child’s record in a more permanent fashion with parental consent. 

If your child has a positive/abnormal result, our team will work closely with your providers to decide what to do next. We are developing the ABGS program to screen for conditions that could substantially improve health with early detection. Each condition on an ABGS panel will have specific follow-up plan designed by medical geneticists. These are doctors who specialize in rare genetic conditions. With this care, our goal is to prevent symptoms from developing or effectively treat them the earliest possible sign of concern. The care plan might include additional lab tests and imaging studies. It could also consist of referrals to specialists with recommendations from your child’s regular health care team.    

In addition, a genetic counselor will be available for a telemedicine consultation. They can discuss the result and what is means for your family. They can also help you connect to support networks for patients and families who have had to cope with the condition. 

The privacy and security of your child’s data is of utmost importance to our team. In the research project, UNC will store your child’s genetic data in secure research databases. This genetic data (or genetic information) includes items like your child’s genetic screening results. Research team members are the only ones who can see this identifiable data. If a child has a positive/abnormal screening result, it will likely be part of their health record. This data would then be protected by the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule like other clinical data.   

Research data is covered by a certificate of confidentiality from the NIH. This ensures that no one will share this research data with schools, employers, life insurers or any other entities. However, we will also ask participants for consent to share data with other qualifying researchers. These researchers will uphold the same rigorous privacy requirements. All shared research data will de-identified. This means that the data cannot be linked to a certain person. Data sharing lets researchers learn as much as they can about how to use genomic screening to improve health care. Research participants can choose not to have their data shared. Learn more about the protection of patient data in health research. 

As noted above, only the ABGS team has access to identifiable genetic and health data collected in this study. Research publications and databases will include some forms of deidentified information. Broader sharing of the research data would require parental consent.   

If ABGS becomes a routine part of health care for children after the research has been done, federal laws will keep their health data safe. These laws include HIPAA and the Genetic Information and Nondiscrimination Act (GINA) of 2008 which are in place to protect patient information and prevent discrimination based on genetic data.  

The HIPAA Privacy Rule protects the privacy of patients’ identifiable health data. It applies to “covered entities” like healthcare providers, health insurance companies, and certain businesses. These entities need consent from patients to handle their health information. However, HIPAA regulations do not cover life insurers, most employers, schools, and state agencies.  

GINA prevents most employers from using genetic data to make decisions about employment. It also stops health insurers from factoring in a person’s genetic information when deciding on eligibility or premiums. That said, this regulation does not extend to employers with fewer than 15 employees or the US military. Additionally, it does not cover long-term insurances like life, disability, and long-term care, which may call for access to medical records. These privacy risks should be weighed against the benefits of an early clinical diagnosis and management. 

The ABGS team includes team members who are trained genetics communicators. These members can answer general questions on screening or specific to our research. If you need more in-depth assistance, we have a core group of genetic counselors who can take any inquiries. If you have any concerns not seen in this section, please contact us at ABGS@unc.edu. 

Currently the only ways for parents/caregivers to provide input on the project is as a part of the Community Research Board and by sending feedback directly to our email ABGS@unc.edu. For more information on joining the CRB, here is the CRB recruitment flyer (en español). We will continually update this section with more ways that you can get involved in the future.