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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. 

 

  • 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

Think you might be eligible?

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