Evidence map›Paper›PMID 29424826›Full record

ArticleOptometry and vision science : official publication of the American Academy of Optometry2018

How Do Patients Respond to Genetic Testing for Age-related Macular Degeneration?

Catherine A McCarty, Michael J Fuchs, Allan Lamb, Pat Conway

Open access · hybridAbstract read
In one paragraph

Article in Optometry and vision science : official publication of the American Academy of Optometry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 11 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Catherine A McCartyUniversity of Minnesota Medical School, Duluth, Minnesota.
Michael J FuchsDepartment of Optometry, Essentia Health, Duluth Minnesota *cathy@d.umn.edu.
Allan LambEssentia Institute of Rural Health, Essentia Health, Duluth, Minnesota.
Pat ConwayEssentia Institute of Rural Health, Essentia Health, Duluth, Minnesota.
Essentia Health · USUniversity of Minnesota · US

Funding

IRIS: Incorporating Research Into SightU01HG006389 · NHGRI · ESSENTIA INSTITUTE OF RURAL HEALTH · PI MCCARTY, CATHERINE ANNE · 2011 to 2014
$4.1M
NHGRI NIH HHS U01 HG006389
6 · The paper itself

Abstract

significanceThe American Academy of Ophthalmology currently recommends against routine genetic testing for complex diseases such as age-related macular degeneration (AMD). The results of this study demonstrate that patients are very interested in predictive genetic testing for AMD, find the information useful, and make behavioral changes as a result of the information. PURPOSE: The goal of this project was to conduct a pilot AMD genomic medicine study.

methodsEligible patients were aged 50 to 65 years with no personal history of AMD. DNA samples were genotyped for five single-nucleotide polymorphisms (SNPs) in the CFH gene, one SNP in the ARMS-2 gene, one SNP in the C3 gene, and one SNP in the mitochondrial ND2 gene. A risk score was calculated utilizing a model based on odds ratios, lifetime risk of advanced AMD and known population prevalence of genotype, haplotype, and smoking risk. The study optometrist provided the patient's risk score and counseling for personal protective behaviors. Telephone interviews were conducted 1 to 3 months after the counseling visit.

resultsOne hundred one subjects (85%) participated in the genetic testing; 78 (77.2%) were female. Follow-up interviews were conducted with 94 participants (93.1%). More than half (n = 48) of the participants said that they were motivated to participate in the study because they had a family member with AMD or another eye or genetic disorder. Despite low risk levels, many participants reported making changes as a result of the genetic testing. Twenty-seven people reported making specific changes, including wearing sunglasses and brimmed hat and taking vitamin supplements. Another 16 people said that they were already doing the recommended activities, including wearing glasses, quitting smoking, and/or taking vitamins.

conclusionsInterest in genetic testing for future risk of AMD was high in this population and resulted in support to continue current health behaviors or incentive to improve behaviors related to eye health.

Indexed as

Genetic TestingPolymorphism, Single NucleotideAgedComplement C3Complement Factor HFemaleGenotypeHumansMacular DegenerationMaleMiddle AgedNADH DehydrogenasePatientsPilot ProjectsProteinsRisk AssessmentARMS2 protein, humanCFH protein, humanComplement C3Complement Factor HNADH DehydrogenaseNADH dehydrogenase subunit 2, humanProteins

Identifiers

PMID29424826
PMCPMC5839714
OpenAlexW2794194301

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.