Conditions Screened
What We Screen—and Why
The Sunshine Genetics will use whole genome sequencing to screen healthy newborns in Florida for over 750 genetic conditions, the majority of which are not currently screened as part of standard or traditional newborn screening.
The Sunshine Genetics Tier 1 gene-condition list is informed by the BEACONS study and is currently developing a tier 2, with additional gene-conditions. The BEACONS gene list includes 106 conditions that could be detected on the Recommended Uniform Screening Panel (RUSP). All conditions included in the BEACONS list begin in infancy or early childhood and have effective treatments or medical actions.
We welcome your suggestions for additional gene-conditions in tier 2, provided they are not already listed in tier 1. All conditions being considered for inclusion in tier 2 will have a pediatric onset (age < 18 years) and will have effective treatments or medical actions including but not limited to surveillance guidelines, contraindications, and behavioral interventions.
Our gene-condition lists are dynamically evolving and please watch this space for updates.
Screening is designed to identify conditions before symptoms appear, allowing families and providers to plan care earlier.
Condition List
Sunshine Genetics screens for more than 750 medically actionable genetic conditions. Below are examples of commonly screened conditions to help you understand the types of conditions included.
Identifying conditions early can improve care and long-term health outcomes.
Early intervention can help prevent complications and support healthy development.
Families and providers can plan care with more confidence and guidance.
How Conditions are Selected for Tier 1
The Sunshine Genetics Tier 1 gene-condition list was derived from the BEACONS study. All conditions but G6PD deficiency will be included in Tier 1. The Sunshine Genetics Gene-Condition Working Group made the recommendation to exclude G6PD because of concerns about the capacity of Florida’s clinical system to respond to an increase in detected conditions (and false positives). This recommendation was approved by the Sunshine Genetics Executive Committee.
An optional add-on Tier 2 gene-condition list will be offered to participating families.
How Conditions are Selected for Tier 2
For a gene to be included in the screening, it must meet the following criteria:
- The gene is known to cause a condition:
- Utilize clinical validity frameworks (e.g., ClinGen gene-disease validity classifications: “Definitive” or “Strong”).
- For genes that have not yet been validated through clinical validity frameworks, expert opinions are discussed and approved by the Sunshine Genetics Gene-Condition Working Group.
- The condition associated with the gene has a serious impact on a child’s health and/or is life limiting
- The condition associated with the gene affects children under 18 years of age.
- Early or pre-symptomatic intervention for the condition may lead to improved outcomes in children, compared to intervention initiated later during the disease course. The intervention could either cure, delay, or modify the course of the condition or prevent symptomatic onset. Qualifying interventions can include medical treatments (evidence based as well as on-going clinical trials), supportive or behavioral interventions, contraindication awareness (e.g., contraindicated drugs), dietary management, surgery, anticipatory care and surveillance for condition related sequelae enabling timely interventions, or genetic therapies.
- Gene-condition associations included on the list should demonstrate sufficient evidence for a clinically meaningful and reasonably penetrant phenotype relevant to the intended screening context. Penetrance should be evaluated in the context of the specific condition, phenotype severity, inheritance pattern, age of onset, and variant type, recognizing that penetrance and expressivity may vary across disorders and allelic variants associated with the same gene. Gene-condition pairs associated primarily with low penetrance or uncertain clinical significance may be excluded.
Note: Conditions nominated solely to reduce diagnostic odyssey or to inform reproductive decision-making or facilitate cascade testing for parents are outside the scope of this program.
Return of Results
What types of results will be returned?
- Only pathogenic and likely pathogenic sequencing variants and CNVs will be reported
What types of results are not reportable?
- VUSs will not be returned
- Carrier status will not be reported
- ACMG secondary findings will not be reported
What is beyond the scope of this program?
- Methylation studies, RNA sequencing and conditions not reliably detected by short read sequencing technology.
Learn More About the Screening Process
From sample collection to results delivery, Sunshine Genetics follows a carefully designed process supported by clinicians, researchers, and the Florida Department of Health.
You can learn more about how the program works, what to expect, and how results are shared with families.
See if Your Newborn Qualifies
Eligibility is based on factors such as age, location, and participation through partner providers.
Ready to take the Next Step?
If your newborn is eligible, you can enroll in Sunshine Genetics and access complimentary genomic newborn screening.