FAQs for Providers

For the ABGS study, we will be collecting DNA samples via Genotek buccal swab collection kit.

Parents will be asked to make sure their child does not eat or drink 30 minutes before their doctor’s appointment. This will help to make sure that the results of the screening test are accurate.

Samples will be collected during the WCC by clinic staff. The research team will train clinical personnel in obtaining the specimens via buccal swab collection and will supply each participating clinic with collection kits.

Study staff will ensure that the correct sample collection tubes and shipping instructions are provided.

Samples should be mailed in the provided mailers self-addressed stamped envelopes and mailed weekly.  

Samples will not need special storage and can be stored at room temperature until they are mailed.

ABGS will build on traditional newborn screening priorities to include a small group of highly actionable genetic conditions. A committee including pediatricians, geneticists, genetic counselors and other experts have determined which diseases to include based on stringent criteria focused on the effectiveness of surveillance and/or interventions to improve health outcomes in pre-symptomatic individuals. A complete list of conditions included in the screening program at each time point will be available to providers and caregivers.

The study team developed and validated targeted sequencing procedures for the genes included in the screening program. We will prioritize approaches that only obtain results specific to the conditions included in the screening program (i.e. NOT whole genome sequencing), to avoid concerns related to incidental information that is “off target” or less actionable. 

As a screening test, ABGS will provide either a “negative/normal” or “positive/abnormal” result, where positive/abnormal reflects an increased risk of developing a condition being screened for. Benign variants that are not associated with disease will not be disclosed.

On rare occasions, the ABGS screening test might fail due to a technical problem. In case of a sample failure, the family’s participation in the study would conclude.  

 Based on the aggregate prevalence of the conditions included in the ABGS panels, we estimate that fewer than 1 out of every 20 children will have a positive screening result. 

Results will initially be returned to providers as an electronic PDF file and/or hard copy printed report (as preferred by the practice). Each clinic will be responsible for returning test results to families in the manner that works best for them. Since most results will be “negative/normal”, it would be reasonable for these results to be provided via telephone, secure electronic communication, or mail.

In the rare case of a “positive/abnormal” result, we think it would be appropriate for a clinical provider to call the caregiver to disclose the result and offer an expedited follow-up appointment for more detailed discussion about next steps. 

As part of the pilot, the ABGS research team will engage directly with clinical providers to prepare them for “positive/abnormal” result disclosure and follow-up with them to ensure that care-givers received the results. Each positive/abnormal report will be accompanied by a succinct document with information about the specific condition identified in the patient and a list of resources for more detailed information and family support networks, which can be shared with care-givers. In addition, providers will be given a checklist of clinical “next-steps” (e.g. lab tests, imaging, medications, and specialist referrals) for result confirmation and disease management.  

A study genetic counselor will also be available as needed for a 30-45 minute telemedicine consultation with any study participant’s caregivers, at no cost to the participant. 

As a research study funded by the National Human Genome Research Institute, the pilot ABGS panels will be offered at no charge to patients. If the program becomes routine, we anticipate that such screening might be offered as a self-pay service, become a covered preventive medical service by private and public insurance, and/or be subsidized by health systems or state public health programs. 

For any patient with a positive/abnormal result, follow-up management is expected to be part of their regular care, including clinic visits, laboratory tests, imaging, and specialist referrals.

The ABGS research study does not include funding for follow-up care.

If a positive result is obtained, parent genetic testing may be recommended, and the ABGS research study does not include funding for this follow-up testing.

For any patient with a positive/abnormal result, follow-up management is expected to be reimbursed as it would be for any patient with complex health conditions that require follow-up clinic visits, laboratory tests, imaging, and specialist referrals.

In this case, the appropriate disease-specific and/or procedural ICD codes would be applied.  

The parent and any child over 7 will have talked with the ABGS research team and provided informed consent/assent to enroll in the ABGS study.

They will have been provided information about the risks and benefits of the ABGS screening test.

They will expect to talk about the ABGS screening test at the well-child visit with the pediatrician.

They will know that they can decide to get the screening test, and that even if they do not decide to get the screening test, they will remain in the study and will complete a survey about their decision.

The provider should direct the patient to review the educational materials they received when they enrolled in the study, visit the ABGS website, or send an email to abgs@med.unc.edu.

If a patient would like to defer their decision about the ABGS Screening Test to a subsequent appointment, they will have the ability do so.  

Contact a study coordinator by sending an email to abgs@med.unc.edu 

Contact a study coordinator by sending an email to abgs@med.unc.edu.

We are doing this study to see:

• If and how helpful it is to screen children for certain rare but treatable genetic conditions during primary care visits.
• At what ages children should be screened for these conditions to best impact their health.

We are calling this new approach Age-Based Genomic Screening, or ABGS. We hope that the results of ABGS will help us learn:

• If and how ABGS can be integrated into primary care.
• How to maximize the benefits and minimize the harms of ABGS.
• How to ensure access to ABGS screening to everyone who would like their child to have it.
• What parents and caregivers think about ABGS, whether or not they decide for their child to have it.
• How to improve genomic screening in the future.

Parents are eligible to join this study if they are a parent or caregiver who is at least 18 years old, with a child who is both:

1. Around the age of 2, 5, or 10; and
2. A patient at a participating clinic.

In general, people might decide to join a research study if they want to help the community know the best ways to improve health care. People might decide not to join a research study if they think that the potential benefits of being in the study don’t make up for the risks, or if they don’t wish to do some or all of the study activities.

For the ABGS study, parents/caregivers will get information about study activities, including risks and benefits, to help them decide whether to join. To help them make their decision, they will also be able to review information if they wish to learn about different genetics and genomics topics and their connection to ABGS.

After joining the ABGS study, parents/caregivers will decide if they want their child to have the ABGS screening test during their next scheduled doctor’s visit.

Before and after making this decision, parents/caregivers will agree to:

• Learn more about what the ABGS test can (and cannot) tell them about their child’s health.
• Speak to their child’s doctor about the ABGS test during their next scheduled appointment.
• Complete paid surveys and interviews to share their opinions about ABGS and how to improve it for others in the future.

Once parents have joined the study, they will learn more about what the ABGS screening test can (and cannot) tell them about their child’s health at the next scheduled doctor’s visit.

Participants can learn more about genetics and screening before and while deciding about the ABGS screening test from our educational modules. They are designed to provide information on genetics and genomics topics and their connection to ABGS.

Ultimately, the decision to join is up to participants. If they join the ABGS study but decline the screening test for their child, we will still ask them to complete paid surveys to share their opinions about ABGS and how to improve it for others in the future.

Pros: 

Genetic screening can help patients and their doctors make decisions about a child’s care, potentially improving their health.

• If the screening finds a condition, then a child’s doctor can recommend treatments and check-ups to help keep them as healthy as possible.
• All conditions chosen for the screening test can be treated and early treatment is expected to lead to better health outcomes.

Cons: 

Genetic screening can positively impact physical health, but for some, it can have an emotional toll.

• Learning that a child is at risk for a disease can be scary and bring up unexpected emotions.

Genetic screening cannot tell us everything about an inherited disease.

• For example, a positive result does not indicate when or if a disease will develop, or predict how severe symptoms may be.
• Geneticists and genetic counselors can tell us more specifically about what a particular test will or will not tell us.

There are limits to the ABGS screening test:

• Genetic findings CANNOT perfectly predict when or if any given person will develop symptoms of a health condition
• ABGS CANNOT look for every condition that a child could develop in their lifetime. This means that a negative ABGS screen does not guarantee a lifelong clean bill of health.

ABGS is NOT looking for:

Asthma, allergies, autism, or other common diseases of childhood:

• These diseases are not the type of rare genetic conditions that ABGS can look for.

Conditions that aren’t currently preventable or treatable.

• This is so we can focus on conditions where this is good evidence that early treatment can make a difference.

Conditions that only affect adults:

• These are more appropriate to screen for in adults.

No, the individual genetic screening a child will undergo through ABGS will not directly reveal family ancestry or geographical origin.

No, ABGS cannot determine parentage. However, in some cases follow up testing will be recommended for parents to asses their risk of disease.

No, only one parent needs to give permission for their child to undergo ABGS. However, in some cases follow up testing will be recommended for parents to asses their risk of disease.

Because the ABGS screening test is a research test, we cannot provide an estimate of how long it will take to return results.

There is no cost to parents or children to participate in the ABGS 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.

If a child has a positive/abnormal screening result for a certain genetic condition, additional follow-up care will be recommended. This care is needed to prevent the poor health outcomes caused by that condition.

The child’s health insurance would be expected to pay for this additional health care, just like if the condition had been found outside of ABGS screening.

Negative/normal results will be the case for the vast majority of children who have ABGS screening. 

These children are considered at “usual risk” for the conditions screened–they will not need extra medical care beyond what is recommended for all children.

Just as in other types of screening, false negative results are uncommon but possible. While a negative ABGS result is reassuring, any concerns about a child’s health should be discussed with their doctor right away.

Genetic testing is a highly accurate way to identify the presence of a rare hereditary condition.

However, as with any medical test there are limitations to our ability to interpret the findings.

In rare cases this might mean that a positive/abnormal result is later deemed to represent a “false positive”.

Or, in some cases, the result may be accurate but the individual never develops symptoms or has a less severe course than other people with the same condition.

In these cases, the additional specialized medical care would have been unnecessary and potentially introduced additional risks to the patient.

Overall, the ABGS screening test is being designed to maximize the benefits of early detection while minimizing the harms.

Genetic test results do not perfectly predict individual outcomes. If a genetic finding indicates a likely condition, there may still be uncertainty about when, whether and which symptoms develop.

Some genetic health conditions can be caused by more than one gene. The ABGS screening test may not include all genes linked to a condition.

Some health conditions, like cancer risk or high cholesterol, can have many different causes. A person receiving a negative screening for genetic risk for disease may still develop that disease for other reasons.

Some genes are linked to more than one genetic health condition. There may be rare situations when we report a condition not included on the screening test if it seems similarly treatable. In general, the ABGS study will only report genetic findings expected to cause a condition chosen for screening by ABGS.

The privacy and security of children’s data is of utmost importance to our team. Genetic data directly connected to a specific child will only be accessible to the research team and the child’s healthcare provider. We will ask for consent to share de-identified research data with other researchers. Please see below for information:

The research team:

In the research project, UNC will store a child’s genetic data in secure research databases. This genetic data (or genetic information) includes items like a child’s genetic screening results. Research team members are the only ones who can see this identifiable data.

Healthcare providers:

If a child has a positive/abnormal screening result, it will become 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 in someone’s medical record.

Other researchers, with permission:

We will ask participants for their consent to share data with other qualifying researchers. These researchers will uphold the same rigorous privacy requirements as the UNC research team:

• All shared research data will be de-identified. This means that the data cannot be linked to a certain person.
• All de-identified research data will be stored in a secure database only accessible to other researchers with permission.

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.

For more information, read our educational module: Safeguards in Genetic and Genomic Research. (link when available)

All research data, including genetic sequencing, is protected by federal rules and regulations and overseen by the UNC Institutional Review Board. Research data is also protected by a Certificate of Confidentiality from the US government. This ensures that no one will share this research data from this or any other study with schools, employers, life insurers, or any other entities. 

A child’s study related information will be stored in a secure database that only research team members have access to.

If there is a positive result, it will be shared with the child’s family and health care provider so that it can become part of their medical record, to be used to make decisions about their health care.

Once part of the medical record, this information will be protected by other federal laws that protect health care data. 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 patient’s 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.
• GINA prevents most employers from using genetic data to make decisions about employment. It also stops health insurers from considering a person’s genetic information or family history 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. These privacy risks should be weighed against the benefits of an early clinical diagnosis and management.

No, we are not selling genomic data to commercial entities.