大象传媒

We are doing this study to see:

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

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

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

For more information, read our educational module: The Age-Based Genomic Screening Program.听

You are eligible to join this study if you 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 partnering clinic

In general, people might decide to join a research study if they want to help the community know the best ways to improve heath care. People might听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.听

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.听

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.听

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

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

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

You can learn more about genetics and screening before and while deciding about the ABGS screening test for our educational modules. They are designed to provide Information on genetics and genomics topics and their connection to ABGS.听

Talking to your doctor can also help you decide whether to have genetic screening for your child, and how to understand the screening results.

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

For more information, read our educational modules: Genetic Screening and Testing, and Possible Benefits and Risks of Genetic Screening.

Pros:听

Genetic screening can help you and your doctor make decisions about your child’s care, potentially improving their health.

• If the screening finds a connection, then your 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 your physical health, but for some, it can have an emotional toll.

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

Genetic screening cannot tell you 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 you more specifically about what a particular test will or will not tell you.

For ore information, read our educational modules: Genetic Screening and Testing, and Possible Benefits and Risks of Genetic Screening.

There are limits to the ABSG screening test:

Genetic findings听CANNOT perfectly predict when or if any given person will develop symptoms of a health condition.

ABGS听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听NOT looking for:听

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

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

Conditions that aren’t currently preventable or treatable:

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

Conditions that only affect adults:听

• These are more appropriate to a screen for in adults.

No, the individual genetic screening your 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 parent 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 to assess their risk of disease.

Right now, checks for severe and life-threatening genetic diseases. These diseases include some metabolic disorders where the body cannot break down protein or fat properly. Detecting these conditions in newborns lets doctors treat these conditions more effectively before symptoms appear. 听

ABGS builds on newborn screening to look for other severe genetic disease that may appear during childhood. The conditions chosen for screening are treatable and are expected to have better outcomes with early treatment. Some examples of conditions that the ABGS screening test will look for include , , and . A full list of conditions is available at _____.听

For conditions on the ABGS screening test, a positive/abnormal result means that it is very likely a child will develop symptoms of the condition. Because ABGS is designed to check for rare genetic conditions, we expect that less than 5% of children will have a positive/abnormal screening result.

There is no cost to parents or children to participate in the ABGS research study. Our study’s funding from the of the National Institutes of Health (NIH) will cover the costs of genomic screening.听听

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 has been found outside of ABGS screening.

You will be able to get copies of your child’s ABGS screening panel results from the doctor who orders it at your clinic. Our ABGS research team will be able to provide a copy of our research report to you for long-term records.

Positive/abnormal results will be entered Into the child’s medical record after being confirmed by a second test in a clinic lab.

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 concern about your child’s health should be discussed with their doctor right away.

If your child has a positive/abnormal result, our team will work closely with your child’s healthcare team to decide what to do next.

We are developing the ABGS program to screen for conditions that could improve health with early detection. All conditions included are expected to have better results with early treatment and offer more specialized care options to better improve outcomes. These options might include things like additional lab tests and imaging studies. It could also consist of referrals to specialists with recommendations from your child’s regular health care team. 听听

Our goal with this personalized care is to prevent symptoms from developing, or effectively treat them at the earliest possible sign of concern.

For each condition on an ABGS panel, experts In rare genetic conditions will design a specific follow-up plan to share with your child’s doctors.

In addition, a genetic counselor will be available for telemedicne consultation with you to:

• Discuss the result and what it means for your family.
• Help you connect to support networks for patients and families with the condition.

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.

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

The research team:

In the research project, 大象传媒 will store your child’s genetic data in secure research databases. This genetic data (or genetic information) includes items like your chid’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 (HIPAA) Privacy Rule like other clinical data in someone’s medical record.

Other researchers, with your permission:

We will ask participants for their consent to share data with other qualifying researchers. These researchers will uphold the same rigorous provacy requirements as the 大象传媒 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.

All research data, including genetic sequencing, is protected by federal rules and regulations and overseen by the 大象传媒 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, like insurers or any other entities.

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

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

Once part of the medical record, this information will be protected by other federal laws that protect health care data.听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: 听

• 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.
• 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 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.听

For more information, read our educational module: Safeguards in Genetic and Genomic Research.

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

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.听

Currently the only ways for parents/caregivers to provide input on the project are to join the Community Research Board or by sending feedback directly to our email ABGS@unc.edu. We will continually update this section with more ways that you can get involved in the future.听