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Secondary Findings Reportable by NHGRI Genomic Medicine Research Programs

Below is a list of genes considered reportable or under consideration for reporting as secondary findings by clinical sites participating in several NHGRI genomic medicine research programs. Two of these programs - Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) and the Undiagnosed Diseases Network (UDN) - have not yet defined their reportable findings.

Please note there was wide variation across programs and sites on what was considered reportable depending on the participant's age and clinical phenotype (if any), the research approach and the evolving knowledge on which gene lists are based (see histogram below).  Some sites used an alternate process for assessing reporting of secondary findings that did not rely on a gene list, reporting instead genes for which secondary findings had already been identified or a large list of genes against which preliminary filtering of variant data is performed for further evaluation.

Please also note that NHGRI does not specifically recommend or encourage reporting of genes within this list and that individual site lists may change over time.  This list was assembled and posted for the purpose of informing the community of current practices among research centers in this highly evolving arena.

To collect this information, 21 clinical sites were asked to compile lists of all genes currently returned for secondary/incidental findings, or those that were under consideration for return. NHGRI programs that reported this information included the Clinical Sequencing Exploratory Research (CSER) program (10/10 sites reporting), the Electronic Medical Records and Genomics (eMERGE) Network (7/9 sites reporting), and the Implementing Genomics in Practice (IGNITE) consortium (5/6 sites reporting; the sixth is collecting only family history information, not genotypes). 

 

Number of genes/variants reported per project site

 

The 171 genes listed below were reported by five or more sites.

(Click here for an additional gene list below the table)

ACADM

ACTA2

ACTC1

ACVRL1

ALDOB

APC

APOB

ASL

ATM

ATP7B

BCHE

BCKDHA

BCKDHB

BLM

BMPR1A

BRAF

BRCA1

BRCA2

BTD

CACNA1C

CACNA1S

CACNB2

CASQ2

CBS

CDC73

CDH1

CDKN2A

CFTR

CLN5

COL3A1

CPT2

CYP21A2

CYP2C19

CYP2C9

CYP2D6

DBT

DHCR7

DMD

DPYD

DSC2

DSG2

DSP

EIF2AK3

EMD

ENG

ENPP1

EPCAM

ERCC2

ETFDH

EYS

F11

F5

FAH

FANCA

FANCD2

FBN1

FH

FLCN

G6PC

G6PD

GAA

GALT

GCH1

GCK

GLA

HADH

HAMP

HBB

HFE

HFE2

HLCS

HMBS

IDUA

JUP

KCNE1

KCNE2

KCNH2

KCNJ2

KCNQ1

KIT

KRAS

LAMB3

LAMC2

LDLR

LDLRAP1

LMNA

MAX

MEN1

MET

MLH1

MMAA

MMACHC

MSH2

MSH6

MUTYH

MYBPC3

MYH11

MYH7

MYL2

MYL3

MYLK

NBN

NF2

OTC

PAH

PALB2

PCBD1

PCCA

PCCB

PCSK9

PDGFRA

PKP2

PLN

PMS2

POLD1

PPARG

PRKAG2

PRKAR1A

PROC

PROS1

PTCH1

PTEN

PTS

QDPR

RB1

RBM20

RECQL4

RET

RYR1

RYR2

SCN5A

SDHAF2

SDHB

SDHC

SDHD

SERPINA1

SERPINC1

SGCD

SLC12A1

SLC19A2

SLC22A5

SLC25A13

SLC37A4

SLC3A1

SLC7A9

SLCO1B1

SMAD3

SMAD4

STK11

TGFB2

TGFB3

TGFBR1

TGFBR2

TMEM127

TMEM43

TNNI3

TNNT2

TP53

TPM1

TPMT

TPO

TSC1

TSC2

TTPA

UNC13D

VHL

VKORC1

VPS13B

WRN

WT1

XPA

 

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Last Updated: April 1, 2015