domingo, 24 de febrero de 2019

GeneMatch: A novel recruitment registry using at-home APOE genotyping to enhance referrals to Alzheimer's prevention studies. - PubMed - NCBI

2019 Feb 6. pii: S1552-5260(18)33624-0. doi: 10.1016/j.jalz.2018.12.007. [Epub ahead of print]

GeneMatch: A novel recruitment registry using at-home APOE genotyping to enhance referrals to Alzheimer's prevention studies.

Langbaum JB1, Karlawish J2, Roberts JS3, Wood EM4, Bradbury A5, High N6, Walsh TL6, Gordon D6, Aggarwal R7, Davis P7, Stowell C7, Trisko L7, Langlois CM6, Reiman EM8, Tariot PN6.

Author information

Abstract

INTRODUCTION:

Recruitment for Alzheimer's disease (AD) prevention research studies is challenging because of lack of awareness among cognitively healthy adults coupled with the high screen fail rate due to participants not having a genetic risk factor or biomarker evidence of the disease. Participant recruitment registries offer one solution for efficiently and effectively identifying, characterizing, and connecting potential eligible volunteers to studies.

METHODS:

Individuals aged 55-75 years who live in the United States and self-report not having a diagnosis of cognitive impairment such as MCI or dementia are eligible to join GeneMatch. Participants enroll online and are provided a cheek swab kit for DNA extraction and apolipoprotein E (APOE) genotyping. Participants are not told their APOE results, although the results may be used in part to help match participants to AD prevention studies.

RESULTS:

As of August 2018, 75,351 participants had joined GeneMatch. Nearly 30% of participants have one APOE4 allele, and approximately 3% have two APOE4 alleles. The percentages of APOE4 heterozygotes and homozygotes are inversely associated with age (P < .001).

DISCUSSION:

GeneMatch, the first trial-independent research enrollment program designed to recruit and refer cognitively healthy adults to AD prevention studies based in part on APOE test results, provides a novel mechanism to accelerate prescreening and enrollment for AD prevention trials.