About Genetic Services Research Program
Participation in the Study
Who is eligible?
Eligible participants are English or Spanish speaking adults (or parents/guardians of children) who have received unexpected or suprising health findings from genomic testing. National Institutes of Health (NIH) personnel will help applicants quickly determine if they are eligible.
Specifically, participants will have received secondary findings of pathogenic genomic variants in genes recommended by the American College of Medical Genetics and Genomics as a result of direct-to-consumer (e.g., 23andMe or Ancestry.com), clinical, or research-based genomic sequencing.
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Eligibility Example #1: Mary and Jennifer both have genomic testing and are found to have a pathogenic mutation in the MSH6 gene, which causes colon and uterine cancer (Lynch syndrome). Mary had genomic testing because her father and uncle were both recently diagnosed with colon cancer. Jennifer had genomic testing as part of her son’s autism diagnostic workup (or through Ancestry.com). Even though they both have a mutation in the same gene, Jennifer is eligible for GSRP because she was not being tested to determine her risk for this disease. Mary is not eligible.
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Eligibility Example #2: Dan completes a 23andMe genomic testing kit to find out about what part of the world his family is from. 23andMe’s DNA analysis discovers that Dan has a mutation in the MSH2 gene which causes Lynch Syndrome and puts Dan at a higher risk of developing colon cancer. Dan is eligible for GSRP.
What do participants have to do?
Participants will be asked to complete social and behavioral interviews/surveys and provide personal and family health history information. Many participants will be asked to invite family members to participate in order to undergo cascade genomictesting. Some participants will be invited to travel to the NIH for in-person evaluations. All participants will receive genomic counseling and information about their condition.
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How much does participation cost?
Participation is free of charge.
What is the goal of the study?
The goal of this study is to understand the prevalence of disease, family communication patterns, and healthcare actions of recipients of medically actionable secondary genomic findings.
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Who is conducting the study?
The Genomic Services Research Program (GSRP) is run by the National Human Genome Research Institute (NHGRI), which is a part of the U.S. National Institutes of Health (NIH).
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How many spots?
This study is seeking to enroll 1000 participants over a 3-year period.
Need More Help Determining Your Eligibility?
Below is a list of the most common genomic mutations that are discovered as secondary findings. If your condition is on the list and you think you might qualify but are not sure, please submit your contact information and a NIH staff member will work with you one-on-one to determine your eligibility.
List of Common Secondary Findings
Condition
Hereditary Breast and Ovarian Cancer Syndrome
Gene
BRCA1
BRCA2
Li-Fraumeni Syndrome
TP53
Peutz-Jeghers Syndrome
STK11
Lynch Syndrome
MLH1
MSH2
MSH6
PMS2
Familial Adenomatous Polyposis
APC
MYH-Associated Polyposis; FAP Type 2
MUTYH
Juvenile Polyposis
BMPR1A
SMAD4
Von Hippel Lindau Syndrome
VHL
Multiple Endocrine Neoplasia Type 1
MEN1
Multiple Endocrine Neoplasia Type 2A, 2B
RET
Familial Medullary Thyroid Cancer (in MEN2A)
RET
NTRK1
PTEN Hamartoma Tumor Syndrome
PTEN
Retinoblastoma
RB1
Hereditary Paraganglioma-Pheochromocytoma
Types 1-4
SDHD
SDHAF2
SDHC
SDHB
Tuberous Sclerosis Complex
TSC1
TSC2
WT1-related Wilms Tumor
WT1
Neurofibromatosis Type 2
NF2
Vascular Ehler-Danlos Syndrome
COL3A1
Marfan Syndrome
FBN1
Loeys-Dietz Syndrome
TGFBR1
TGFBR2
SMAD3
Familial Thoracic Aortic Aneurysms and Dissections
ACTA2
MYH11
Hypertrophic Cardiomyopathy
MYBPC3
MYH7
TNNT2
TNNI3
TPM1
MYL3
PRKAG2
MYL2
ACTC1
Dilated Cardiomyopathy
LMNA
MYBPC3
Fabry’s Disease
GLA
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
RYR2
Arrhythmogenic right ventricular cardiomyopathy
PKP2
DSP
DSC2
TMEM43
DSG2
Long QT syndrome
KCNQ1(1)
KCNH2(2)
SCN5A(3)
Brugada Syndrome
SCN5A
Familial hypercholesterolemia
LDLR
APOB
PCSK9
Malignant hyperthermia
Wilson Disease
Ornithine Carbamoyltransferase Deficiency
RYRf1
CACNA1S
ATP7B
OTC
List of Common Secondary Findings
Condition
Hereditary Breast and Ovarian Cancer Syndrome
Gene
BRCA1
BRCA2
PALB2
Li-Fraumeni Syndrome
TP53
Peutz-Jeghers Syndrome
STK11
Lynch Syndrome
MLH1
MSH2
MSH6
PMS2
Familial Adenomatous Polyposis
APC
MUTYH Associated Polyposis; FAP Type 2
MUTYH
Juvenile Polyposis
BMPR1A
SMAD4
Von Hippel Lindau Syndrome
VHL
Multiple Endocrine Neoplasia Type 1
MEN1
Multiple Endocrine Neoplasia Type 2A, 2B
RET
Familial Medullary Thyroid Cancer
RET
PTEN Hamartoma Tumor Syndrome
PTEN
Retinoblastoma
RB1
Hereditary Paraganglioma-Pheochromocytoma
Types 1-4
SDHD
SDHAF2
SDHC
SDHB
MAX
THEM127
Tuberous Sclerosis Complex
TSC1
TSC2
WT1-related Wilms Tumor
WT1
Neurofibromatosis Type 2
NF2
Vascular Ehlers-Danlos Syndrome
COL3A1
Marfan Syndrome
FBN1
Loeys-Dietz Syndrome
TGFBR1
TGFBR2
SMAD3
Familial Thoracic Aortic Aneurysms and Dissections
ACTA2
MYH11
Hypertrophic Cardiomyopathy
MYBPC3
MYH7
TNNT2
TNNI3
TPM1
MYL3
PRKAG2
MYL2
ACTC1
Dilated Cardiomyopathy
LMNA
FLNC
MYH7
DSP
SCN5A
TTN
BAG3
DES
RBM20
TNNC1
Fabry Disease
GLA
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
RYR2
CASQ2
TRDN
CALM2
​CALM3
Arrhythmogenic right ventricular cardiomyopathy
PKP2
DSP
DSC2
TMEM43
DSG2
Long QT syndrome
KCNQ1
KCNH2
SCN5A
CALM1
CALM2
​CALM3
Brugada Syndrome; Long QT Syndrome 3
SCN5A
Familial hypercholesterolemia
LDLR
APOB
PCSK9
Malignant hyperthermia
RYR1
CACNA1S
Wilson Disease
ATP7B
Ornithine Carbamoyltransferase Deficiency
OTC
Hereditary hemorrhagic telangiectasia
ACVRL1
ENG
Pompe Disease
GAA
Hereditary Hemochromatosis
HFE
Biotinidase deficiency
BTD
Mature Onset Diabetes of the Young (MODY)
HNF1A
RPE65-related retinopathy
RPE65
Hereditary transthyretin amyloidosis
TTR