SUNSHINE GENETICS
Frequently Asked Questions (FAQs)
General Questions
What is the Sunshine Genetics Pilot Program?
The Sunshine Genetics Pilot Program is a voluntary research program using genomic newborn screening as an additional newborn screening tool. This genomic newborn screening program can help identify certain rare, actionable genetic conditions earlier in life, offering families the choice to learn additional information about their child that can empower them to plan next steps sooner.
Why is this study being conducted?
The goal of the Sunshine Genetics Program is to identify rare childhood-onset conditions as soon as possible so that Florida babies can live healthier lives. Sunshine Genetics aims to empower families and providers with important knowledge to act sooner and reduce the diagnostic odyssey that children with rare diseases experience.
How is Sunshine Genetics Program different from standard newborn screening?
Standard newborn screening uses a heel-prick blood sample to screen for 60 conditions in Florida. Newborn screening is part of the standard of care for all newborns. You can read more about the program here .
The Sunshine Genetics Program:
- Is an opt-in research program
- Uses a modern testing approach called genomic newborn screening to screen for approximately 900 rare genetic conditions.
- Does not replace standard newborn screening
- If families choose not to participate, their baby will still receive routine newborn screening
Will Sunshine Genetics Program interfere or duplicate current newborn screening?
No. Sunshine Genetics Program does not interfere with standard newborn screening. The heel-prick sample will be sent for testing through the program after the standard newborn screening is completed. Conditions included on standard newborn screening overlap with conditions included in the Sunshine Genetics Program. Both genomic and standard newborn screening can occasionally produce uncertain results.
How is genomic newborn screening different from clinical whole genome sequencing?
Genomic newborn screening looks for genetic changes, or ‘variants’ that are very likely to cause the condition (called pathogenic or likely pathogenic) in only the pre-selected genes. Clinical whole genome sequencing looks at all the genetic information (called genome) and reports variants that are likely to be the cause of a child’s symptom. Clinical whole genome sequencing is not performed on healthy children. Genomic newborn screening does NOT replace clinical genetic testing or whole genome sequencing.
Who can I contact if I have additional questions?
If you have any other questions, please reach out to us at sunshinegenetics@med.fsu.edu
When you sign up for a Nest account, you can also ask to speak with trained study personnel about any program-related questions before, during, or after participation.
Will I be contacted for other reasons?
As new research opportunities are identified, the researchers may invite eligible participants to enroll in new studies. While participants may be recontacted for additional research studies, participation in future studies is voluntary and not required to participate in the Sunshine Genetics Program.
Genetic Condition screened and testing methods
What kind of genetic conditions are included?
The gene lists are dynamic and will evolve over time. Please refer to our “Gene-Conditions” tab for more information.
Tier 1 includes conditions that:
- Impact a child’s health or development.
- Have a treatment or monitoring plan that can start before age one and is expected to meaningfully improve health or prevent
serious complications. - Have other ways, beyond the genetic test itself, to help confirm the diagnosis or guide care, such as blood tests, imaging, physical
findings, or safe monitoring strategies. - Can be reliably detected using the type of genomic newborn screening used by Sunshine Genetics.
Tier 2 includes conditions that:
- Have symptoms that start before the age of 18 years.
- Have a treatment or monitoring plan that is expected to meaningfully improve health or prevent serious complications.
- Some of these conditions do not have a standard treatment yet, and treatment options may be available through clinical
trials.
- Some of these conditions do not have a standard treatment yet, and treatment options may be available through clinical
What kind of conditions are NOT included?
Most genetic and health conditions are NOT included on this screen.
Sunshine Genetics does not include:
- Conditions where symptoms develop over the age of 18 years old.
- Carrier status ( learn more about what being a carrier means ).
- Genetic information on how you break down medications.
- Genetic changes that do not always cause health problems.
- Conditions that lack a treatment or monitoring plan that is expected to meaningfully improve health or prevent serious complications.
Can families/healthcare providers choose which conditions to screen for?
No, the conditions included on Tier 1 and Tier 2 are set. In addition to receiving results for tier 1 conditions, you can choose to receive results for Tier 2 conditions as well.
You can nominate a condition for Tier 2 here
If there is a family history of genetic condition, can the Sunshine Genetics Program test for that?
No. If there is a family history of a genetic condition, genomic newborn screening, including the Sunshine Genetics Program, is not the best way to test for this condition. If you have a family history of a genetic condition, ask your healthcare provider to refer you or your child to see a genetic counselor. You can find a genetic counselor near you here.
Will the list of conditions change over time?
Yes, the gene lists will be reviewed and updated annually. Please refer to our “Gene-Conditions” tab for more information.
You can nominate a condition for Tier 2 here
Will adult-onset conditions or ACMG secondary findings be reported?
Generally, no. Sunshine Genetics Program only tests for pre-selected childhood onset conditions. Some conditions are included in ACMG secondary findings, such as inherited heart rhythm problems (called arrythmias) might show up in childhood and therefore are included in the Sunshine Genetics Program as well.
What are ACMG secondary findings?
The American College of Medical Genetics and Genomics (ACMG) secondary findings are genetic test results that provide information about a selected number of conditions. These conditions typically start showing symptoms in adulthood and early diagnosis leads to better health outcomes due to effective monitoring or treatment. A common example is BRCA -related breast and ovarian cancer predisposition.
Eligibility and Enrollment
Who can participate?
Enrollment has not begun, information will be coming soon.
Participation is optional, and biological parents or legal guardians must provide informed consent in English.
The Sunshine Genetics Program is for babies born in the State of Florida and residing in Florida.
You can join this program if you:
- Are pregnant or have a newborn aged 30 days old or younger
- Plan to give birth in Florida, or had your baby in Florida
- Are the baby’s parent or legal guardian
You may not join this program if:
- You opted out of standard newborn screening
- You are not residing within the State of Florida
- You are not a legal adult (18 years or older) at the time of initiating participation in the program
If my baby has health concerns before/at birth, can my baby still participate in the Sunshine Genetics Program?
The Sunshine Genetics Program is intended for apparently healthy newborns. This program does NOT replace genetic testing for a health condition ordered by your healthcare provider. If genetic testing is recommended for your baby for a health condition, ask to be referred to a pediatric genetics clinic. You can find a genetic counselor near you here.
What are the disadvantages of participating?
- The results may cause worry.
- Your baby could get an incorrect result. This means there is a small chance the test may miss one of the conditions or show a condition that is not really there.
- You may feel anxious or overwhelmed by the need for confirmatory testing and additional medical appointments.
- The results might show a genetic change that doesn’t always cause symptoms or doesn’t cause symptoms until your child is much older (teenager or young adult).
- Some results may also impact other family members.
- There is a small possibility of loss of confidentiality and privacy. This means that you and your baby could be identified through the information collected. While Sunshine Genetics team works hard to protect your information. Even so, no system is perfectly secure.
- Sometimes the law may require us to share identifiable information.
- There is a possibility of discrimination based on genetic results
- Although there are federal and state laws in place to protect against it as much as possible. However, these laws are not perfect.
- The federal law is called Genetic Information Nondiscrimination Act (GINA). You can read about it here
- Florida law include Section 760.40 and 627.4301 of Florida Statutes. You can read about them here and here
How is consent designed?
Informed consent will be obtained digitally through the Nest platform after educational materials are completed. The consent process is self-guided; no program staff are required to be present at any time during the consent process or time of signing. You may complete the education materials and consent at a time and location of your choosing, including from home.
What happens if a family participates?
- A previously collected newborn heel-prick blood sample will be used
- The baby’s genetic information will be analyzed for a defined list of genetic conditions
- Families will be notified of the results through Nest if your child screens negative or there were any challenges with the sample. If your child screens positive, a clinical specialist will contact you to disclose results.
- You can access the results via Nest for a minimum of 5
- years.
- You will be asked to complete surveys via Nest to gather information on your experience with the program
Will extra samples be required?
No. This program uses the small blood taken from your baby’s heel for the standard newborn screening. Your baby will not need another blood draw or any other sample for participation.
What happens if I choose not to participate?
This is an optional research study. Participating in the Sunshine Genetics Program does not replace standard newborn screening. If you choose not to participate, your baby will still receive routine newborn screening. We will invite you to complete a short survey to share the reasons why you decided not to participate.
Is there any cost to participate?
No, Sunshine Genetics is an optional program at no cost to participating families.
Any additional cost associated with confirmatory testing and clinical care is not included in participation and is not covered by the program.
Will participation affect insurance or access to care?
It is very unlikely that results from the Sunshine Genetics Program would impact insurance coverage or access care.
There is a small chance that a loss of privacy regarding genetic results could lead to discrimination. A federal law called the Genetic Information Nondiscrimination Act (GINA) provides some protection against employers and health insurance companies discriminating based on genetic test results. This means health insurers cannot ask for research results or use them to deny coverage or change your child’s premium rates. This law does not include protection against discrimination against disability, life or long-term care insurance.
- You can read more about GINA here .
Florida law (Section 760.40 and 627.4301, Florida Statutes) offers extra protection. In Florida, genetic testing results are considered the exclusive property of the person tested. They cannot be disclosed to others without consent. In addition to health insurers, life insurers, and long-term care insurers may not cancel, limit, deny coverage, or change premium rates, based on genetic test results.
Please be aware that these laws do not cover every situation. They do not protect your child from discrimination by companies that sell disability insurance, or life and long-term care insurance outside of the state of Florida. These protections also may not apply to certain military members, veterans, or federal employees.