FAQs
Frequently Asked Questions
Find answers about eligibility, enrollment, testing, and results.
General questions
Learn the basics about Sunshine Genetics and our newborn genetic screening 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.
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 utilizes whole genome sequencing technology to screen for a pre-selected list of conditions. The 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.
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.
The objective of the Sunshine Genetics Program is to evaluate the clinical utility, public and parental acceptance, and cost-effectiveness of genomic newborn screening. The program will also assess feasibility of opt-in genomic newborn screening using residual samples collected for standard newborn screening. The study also assesses utility, acceptability and effectiveness of the Nest Genomics platform for workflow management, patient education, consent and return of results. Moreover, health economic analyses will assess whether digital and telegenetics workflows reduce workforce constraints, informing the feasibility of implementing gNBS as a universal public health program in Florida.
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
Newborn screening in the state of Florida is a public health program
that is part of the standard of care for all newborns and includes
screening for 60 conditions through various methodologies. 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 ~900 rare genetic conditions
- Does not replace standard 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.
No. Sunshine Genetics Program is not expected to interfere with
standard newborn screening. Sunshine Genetics does not change the
process of standard newborn screening. Dried blood samples are transferred for testing from the public health laboratory after standard newborn screening is completed. Conditions included on standard newborn screening overlap with conditions included in the Sunshine Genetics Program; however, they may use different testing methodologies. Both genomic and standard newborn screening can have false positive or false negative results.
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.
Genomic newborn screening reports only pathogenic/likely pathogenic (P/LP) in only the pre-selected genes. Variants of uncertain significance (VUS) will NOT be reported. Clinical whole genome sequencing is phenotype driven and reports P/LP variants in any genes that are associated with a child’s phenotype. VUS might also be reported if suspected to be associated with the phenotype. Clinical whole genome sequencing might also report variants that are not associated with the phenotype if opted-in such as ACMG secondary findings or pharmacogenomic results. Clinical whole genome sequencing is not performed on healthy children. Genomic newborn screening does NOT replace clinical genetic testing or whole genome sequencing.
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.
If you have any other questions, please reach out to us at sunshinegenetics@med.fsu.edu.
Once participants create their Nest account, they can also request to speak with trained study personnel about any program related questions before, during or after participation.
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.
As new research opportunities are identified, the researchers may invite eligible participants to enroll in new studies. We will ask for permission to contact participant in the future; however, this is not a requirement to participate in the program.
Genetic conditions screened and testing methods
Learn about our condition lists, and how they were selected.
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,
The gene lists are dynamic and will be updated annually. Please refer
to our “Gene-Conditions” tab for more information.
Tier 1 gene-condition list was informed by the BEACONS study and
includes conditions that:
- Affect a child’s health or development.
- Have an actionable treatment or medical monitoring plan that can
start before age 1 and is expected to meaningfully improve health
or prevent serious complications, including:- Starting a treatment that changes care in an important way.
- Avoiding treatments that could be harmful.
- Surveillance for specific health problems when early care
can help.
- 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 gene-condition list includes conditions that:
- The gene is known to cause a condition, using clinical validity
frameworks such as 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. - The condition associated with the gene affects children under
18 years of age. - Early or pre-symptomatic intervention for the condition leads to
substantially improved health outcomes in children compared to
intervention after the onset of symptoms. - The intervention, including clinical trials, could either cure,
delay, or modify the course of the condition or prevent symptomatic
onset. - Gene-conditions are known or predicted to be highly penetrant.
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.
Most genetic and health conditions are NOT included on this screen.
Sunshine Genetics does not include:
- Adult-onset conditions.
- Carrier status.
- Pharmacogenomic results.
- Those with evidence of lower penetrance.
- Conditions where early testing would reduce the diagnostic odyssey but there is no treatment or monitoring plan that would meaningfully improve health or prevent serious complications.
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.
No, the program uses a predefined condition list to ensure consistency, accuracy, and research integrity. Participants will receive results for Tier 1 conditions. Participants can opt-in to receive results for Tier 2 conditions as well.
You can nominate a condition for Tier 2 here.
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.
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. You can refer your patient to see a genetic counselor to discuss family history and facilitate appropriate genetic testing. You can find a genetic counselor near you here.
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
Yes, the gene lists will be analyzed and updated annually by the Sunshine Genetics Gene-Condition Working Group to reflect evolving evidence. Please refer to our “Gene-Conditions” tab for more information.
You can nominate a condition for Tier 2 here
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.
Generally, no. Sunshine Genetics Program only tests for pre-selected childhood onset conditions. Some conditions are included in ACMG secondary findings, such as inherited arrythmias, might present with childhood onset 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 unrelated to the original purpose of the testing. These conditions are typically adult-onset and early diagnosis leads to better health outcomes due to effective monitoring or treatment. A common example is hereditary breast and ovarian cancer syndrome due to BRCA1/2 variants.
Eligibility and enrollment
Find answers about eligibility requirements and how to enroll in the program.
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.
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.
People may enroll if they:
- Are pregnant or have a newborn 30 days old or younger.
- Plan to give birth in Florida, or had a baby born in Florida.
- Are the baby’s parent or legal guardian.
People may not enroll in this program if:
- They opted out of standard newborn screening.
- They are not residing within the State of Florida.
- They are not a legal adult (18 years or older) at the time of initiating the program participation.
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.
The Sunshine Genetics Program is intended for apparently healthy newborns. This program does NOT replace clinical genetic testing for health conditions. If genetic testing is recommended, place a referral to a pediatric genetics clinic. You can find a genetic counselor near you here.
- 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.
- The risk to the participants is minimal.
- Risk of anxiety or emotional distress for families
- Risk of false positive or false negative results
- Burden for families associated with receipt of a positive screen result necessitating confirmatory testing and additional medical appointments
- Small risk of loss of confidentiality and/or privacy.
- Risk of detection of variants where the risk of disease development is low (risk factor or low penetrance findings)
- Risk of detection of variants associated with milder phenotype or of later onset (adolescent or adult)
- Slight risk of discrimination associated with genetic testing.
- 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.
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.
Informed consent will be obtained digitally through the Nest platform following completion of educational materials. The consent process is asynchronous and self-directed; no study staff are required to be present at any time during the consent process or time of signing. Parents/guardians may complete education and consent at a time and location of their choosing, including from home.
- 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.
- A sample of the dried blood spot collected as part of standard newborn screening will be used AFTER standard newborn screening is completed.
- Genomic sequencing will be performed at our contracted certified clinical genetics laboratory and sequencing data will be analyzed for a defined list of genetic conditions.
- Families will be notified of the results via Nest if their child screens negative or testing failed due to sample failure. For screen positive results, the central coordinating hub at FSU will coordinate with the relevant clinical specialists to disclose the results.
- Results will be accessible via Nest for a minimum of 5 years.
- Families will be asked to complete surveys via Nest to gather information on their experience with the program.
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.
No. Sunshine Genetics uses dried blood spots collected for standard newborn screening transferred from the State of Florida Public Health Laboratories.
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.
Participation is free and voluntary. If participation is declined, the baby will still receive standard newborn screening. Decliners will be invited to complete a short survey to learn more about the reasons for declination.
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.
No, Sunshine Genetics is a voluntary program at no cost to participating families.
Any additional cost associated with confirmatory testing and clinical care is beyond the scope of this program and is subject appropriate healthcare charges.
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.
It is very unlikely that results from the Sunshine Genetics Program would impact insurance coverage or access care.
There is a small risk 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. You can read more about the laws in Florida here and here.
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.
Understanding Results
Understand the testing process, conditions screened, and what happens after results are ready.
Your child will receive one of three types of results:
- Screen Negative: A negative screen means that it is unlikely that your baby has one of the conditions included in the Sunshine Genetics Program. Most babies will screen negative.
- There is a small chance the screen could miss a baby who has the condition. Therefore, even if your baby’s test is negative, there is still a small chance that your baby could have one of these conditions because no test is perfect.
- Remember, this screen is only looking at some genetic conditions. There are many other genetic conditions that are not included in this screen. Most health conditions that people develop in their lifetime are not included on this screen.
- Screen Positive: A screen positive result means that a genetic change was found that may put your child at risk for one of the conditions we screen for.
- There is a small chance the screen is incorrect and your baby does not have this condition.
- For almost every Tier 1 condition, additional tests can be used to understand if a child has the condition.
- No result: Sometimes, the laboratory may not be able to generate a result from your child’s dried blood spot sample. If this happens, you will be notified through Nest. No genomic newborn screening result will be reported, and your child will be withdrawn from the program. There will be no further program-related contact after this notification.
There are three types of results:
- Screen Negative: A screen negative result means that no pathogenic/likely pathogenic variants were found in the genes tested for. A screen negative result reduces but doesn’t completely eliminate the chances of the child being affected by the conditions tested for.
- Screen Positive: A screen positive result means that a pathogenic/likely pathogenic variant was identified in one of the genes tested.
- No result (sample failure): In some cases, the laboratory may not be able to generate a result from the dried blood spot sample. If this happens, participants will be notified through Nest. No genomic result will be reported, and the participant will be withdrawn from the program. There will be no further program-related contact after this notification.
You will receive results within 3 months.
- If the result shows screen negative:
- You will get a text and/or email with a link to the results in Nest. You will be able to learn more about the result and download or print the result.
- You will also receive educational materials in addition to the report.
- You will not get a phone call for a screen negative or no result.
- You will receive two reminders following in case you didn’t review the results.
- You can ask to speak with a genetic counselor about the results.
- If the result shows screen positive:
- A genetic counselor from the Sunshine Genetics team will call you and schedule a virtual visit to explain the result. Results will not be disclosed in detail during this initial call.
- Results will not be made visible in Nest until after the formal genetic counseling appointment.
- If there is no result:
- You will get a text and/or email from Nest.
- Your baby will be withdrawn from the program and there will be no further program-related contact after this notification.
- You can ask to speak with a genetic counselor about the results.
- You will receive two reminders following in case you didn’t review the results.
Results are expected within 3 months.
- If the result shows screen negative, parents/guardians will:
- Get a text and/or email with a link to the results in Nest. They will be able to learn more about the result and download or print the result.
- Receive educational materials in addition to the report.
- Not get a phone call for a screen negative or no result.
- Participants can ask to speak with a genetic counselor about the results.
- Receive two reminders following in case they didn’t review the results.
- For conditions overlapping with the standard Florida NBS, a concordance review will be completed before result disclosure.
- If the result shows screen positive:
- A genetic counselor from the Sunshine Genetics team will call the parent/guardian and schedule a virtual visit to explain the result. Results will not be disclosed in detail during this initial call.
- Results will not be made visible in Nest until after the formal genetic counseling appointment.
- If there is no result:
- Parents/guardians will get a text and/or email from Nest.
- Participant will be withdrawn from the program and there will be no further program-related contact after this notification.
- Participants can ask to speak with a genetic counselor about the results.
- Parents/guardians will receive two reminders following in case you didn’t review the results.
- A genetic counselor from the Sunshine Genetics team will call you and schedule a virtual visit to explain the result. Results will not be disclosed in detail during this initial call.
- During the genetic counseling appointment, you will be able to learn what the results mean for your baby and family and will receive support materials and information next steps.
- Results and supporting resources will be visible in Nest after the genetic counseling appointment.
- Sunshine Genetics team will coordinate referrals to specialists for confirmatory testing and ongoing management.
However, continued care and testing is outside the scope of the program.
- A genetic counselor from the Sunshine Genetics team will call the listed parent/guardian and schedule a virtual visit to explain the result. Results will not be disclosed in detail during this initial call.
- During the genetic counseling appointment, the genetic counselor will interpret the results, discuss the implications for the child and family, and explain the next steps. When applicable, the genetic counselor will also address psychosocial impact of the result and broader familial implications (including carrier status, implications for siblings, and reproductive considerations).
- Results and supporting resources will be visible in Nest after the genetic counseling appointment.
- Sunshine Genetics team will coordinate referrals to a condition-appropriate clinical specialist for confirmatory testing and ongoing clinical management.
- However, continued care and testing is outside the scope of the program.
- For conditions overlapping with the standard Florida NBS, a concordance review will be completed before result disclosure.
Rarely, the result 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). Predicting the exact symptoms and when they might start is not possible based on genetic results alone.
Results may show variants where the risk of disease development is low (risk factor or low penetrance findings) or variants that are associated with milder phenotype or of later onset (adolescent or adult). As genotype-phenotype correlation for most conditions is still limited, prediction of presence and severity of symptoms based on genotype alone is limited.
No. The Sunshine Genetics team is available to talk with your baby’s healthcare providers without charge if you request it.
No. The Sunshine Genetics team is available for peer-to-peer consultation healthcare providers involved in the care of the baby without charge.
- During the genetic counseling appointment for a positive screen, you will be able to learn what the results mean for your baby and family and will receive support materials and information next steps.
- The Sunshine Genetics team will coordinate referrals to specialists for confirmatory testing and ongoing management.
- Clinical follow-up including continued care and testing is not coordinated by the program and should be managed by your child’s healthcare providers.
- The Sunshine Genetics team is available to talk with your baby’s healthcare providers without charge if you request it.
- During the genetic counseling appointment for a positive screen, the genetic counselor will interpret the results, discuss the implications for the child and family, and explain the next steps. When applicable, the genetic counselor will also address psychosocial impact of the result and broader familial implications (including carrier status, implications for siblings, and reproductive considerations).
- Sunshine Genetics team will coordinate referrals to a condition-appropriate clinical specialist for confirmatory testing and ongoing clinical management.
- Clinical follow-up including continued care and testing is not coordinated by the program and should be managed by the child’s healthcare providers.
- The Sunshine Genetics team is available for peer-to-peer consultation healthcare providers involved in the care of the baby without charge.
You can access the results through Nest, and it can be downloaded and printed. You will have access to Nest resources for a minimum of 6 years from the time results are returned.
Participants can access the results through Nest and it can be downloaded and printed. Participant will have access to Nest resources for a minimum of 6 years from the time results are returned.
- If genomic newborn screening is negative and standard newborn is positive for the same condition, results will be released to Nest as screen negative. Follow up for positive standard newborn screening will not change. Additional samples might be requested to confirm the results. Study team will coordinate sample collection and confirmatory testing before disclosing the result to the family.
- If genomic newborn screening is positive and standard newborn is negative for the same condition, results will be managed as screen positive (See ‘What happens if a baby screens positive’ for more detail).
- If genomic newborn screening is negative and standard newborn is positive for the same condition, results will be released to Nest as screen negative. Management of positive standard newborn screening will remain unchanged and will follow standard clinical channels. The discordance will be flagged internally as a quality assurance event. Additional samples might be requested to confirm the results. Sunshine Genetics will facilitate specimen collection and confirmatory testing before disclosing the rectified result to the family.
- If genomic newborn screening is positive and standard newborn is negative for the same condition, results will be managed as screen positive (See ‘What happens if a baby screens positive’ for more detail). The study team will notify the Florida Department of Health Public Health Laboratory of the discordant findings.
Privacy Support
Your privacy matters. Get answers about data protection and how to get additional support.
- You will have access to your baby’s screening results through Nest.
- You can request your baby’s results to be sent to your baby’s healthcare providers; however, it is not automatically shared with them.
- Selected study team members, including genetic counselors reviewing the result, will also have access to your baby’s results through the Nest platform.
- *** contracted laboratory performs the testing and will have access to your baby’s results.
- Participants will have access to screening results through Nest.
- Participants can request results to be sent to healthcare providers; however, it is not automatically shared with them.
- Selected study team members, including genetic counselors reviewing the result, will also have access to results through Nest.
- *** contracted sequencing laboratory as a CAP/CLIA-certified laboratory and authorized HIPAA entity will also have access to results as the performing laboratory.
- Selected study team members will have access to your baby’s identifiable health information through Nest
- The state of Florida Public Health Laboratory (PHL) has access to your baby’s identifiable health information for standard newborn screening and sample transfer.
- *** contracted laboratory performs the testing and will also have access to your baby’s identifiable health information.
- Specific groups may access medical records and use participant’s health information for this program. These groups include the group that oversees data and safety for this program, and government agencies like the FDA (U.S. Food and Drug Administration).
- Your child’s identifiable health information will not be shared without your permission unless the law requires it
- Selected study team members will have access to identifiable health information through Nest which is HIPAA compliant.
- The state of Florida Public Health Laboratory (PHL) has access to identifiable health information for standard newborn screening and sample transfer.
- *** contracted sequencing laboratory as a CAP/CLIA-certified laboratory and authorized HIPAA entity will also have access to identifiable health information as the performing laboratory.
- Specific groups may access medical records and use participant’s health information for this program. These groups include the group that oversees data and safety for this program, and government agencies like the FDA.
- Participants identifiable health information will not be shared without permission unless the law requires it
- Pooled, anonymous data will be published in scientific journals, presented at medical conferences and might be shared with other researchers. Anonymized means that information that could be used to identify you or your baby is removed. Pooled means the data will be grouped together and information on individuals will not be shared.
- Certain de-identified results, such as genetic variants, might be published or presented without pooling.
- We will not share information or samples with other researchers in a way that could identify you or your baby.
- In addition to the entities with access to identified health information, pooled anonymous data will be published in peer-reviewed journals, presented at medical conferences and might be shared with other researchers.
- The Sunshine Genetics Consortium will review all proposals for member access to de-identified data.
- Certain de-identified results, such as genetic variants or case studies, will be published or presented without pooling.
- We will not share data or samples with other researchers in a way that could identify the research subject.
Your baby’s sample first will be managed by the State of Florida Public Health Laboratory (PHL) for standard newborn screening. PHL will coordinate transfer of remaining sample to *** contracted laboratory to run the genomic newborn screening. Employees of both laboratories follow strict regulatory rules related to sample access.
Dried blood spot sample first will be managed by the State of Florida Public Health Laboratory (PHL) for standard newborn screening. PHL will coordinate transfer of remaining sample to *** contracted laboratory to perform genomic newborn screening. Employees of both laboratories follow laboratory standards related to sample access.
Your baby’s results are stored on Nest. Access is restricted to authorized individuals only. Learn more about Nest Genomics’ privacy policy here.
Study results are stored on Nest in accordance with HIPAA requirements. Access is restricted to authorized personnel only. Learn more about Nest Genomics’ privacy policy here.
All identifiable health information will be stored in a password protected database and access will be limited to study team members. Identifiable information will be kept in a password protected database and will be linked only with an identification number generated by Nest for this program.
Identifiable health information will not be released without written permission from you except as required by research monitoring agencies.
All identifying information and protected health information will be electronically stored in a password protected database with access limited to study personnel. HIPAA identifiers of all study subjects will be kept in a password protected database and will be linked only with a study identification number generated by Nest for this research.
Clinical information will not be released without written permission of the subject, except as necessary for monitoring by IRB, the FDA, or other relevant entities.
All data will be maintained in password protected, secure databases and on internal servers with access limited to study personnel and approved investigators.
De-identified research information will be stored in a secure database at FSU. Access to stored information will be limited to named study team members.
*** laboratory may store de-identified genomic information in accordance with their policies. You will be informed of these policies in Nest and you can request the information to be deleted. For more information on *** laboratory’s data policy click here.
De-identified research data, including sequencing files will be stored in a secure database at FSU. Access to long-term banked data will be restricted to authorized named personnel.
*** laboratory may retain genomic data in accordance with their institutional data retention policies. Participants will be informed of applicable sequencing partner data retention terms within Nest and may request data deletion by contacting the study team at any time. For more information on *** laboratory’s data retention policy click here.
The sample from your baby is not collected or stored by the program. Remaining genetic sample (DNA) might be stored at ***contracted laboratory for up to 2 years after the program is finished. Storage at ***laboratory follows standard regulations and policies of the laboratory. For more information on *** laboratory’s sample storage policies please click here.
Samples are not collected or stored by the program. Residual DNA samples may be retained for up to 2 years by *** contracted laboratory after the study completion. Specimen handling and retention by *** laboratory follows institutional policies and applicable regulatory requirements. For more information on *** laboratory’s sample handling and retention policies please click here
Not Sure If You Qualify?
If you’re unsure about eligibility, our team can help guide you based on your specific situation.
Ready to Take the Next Step?
If your newborn is eligible, you can take part in Sunshine Genetics to access early screening and contribute to important research.