Limitations of direct-to-consumer genetic testing for age-related macular degeneration

被引：0

作者：

Shaheen, Abdulla R. ^{[1
]}

Uhr, Joshua H. ^{[2
]}

Sridhar, Jayanth ^{[1
]}

Yannuzzi, Nicolas A. ^{[1
,3
]}

机构：

[1] Univ Miami, Bascom Palmer Eye Inst, Miller Sch Med, Dept Ophthalmol, Miami, FL USA

[2] Retinal & Ophthalm Consultants PC, Dept Ophthalmol, Northfield, NJ USA

[3] Bascom Palmer Eye Inst, 900 NW 17th St, Miami, FL 33136 USA

来源：

EUROPEAN JOURNAL OF OPHTHALMOLOGY | 2023年 / 33卷 / 06期

关键词：

direct-to-consumer genetic testing; genotyping; whole genome sequencing; age-related macular degeneration; RISK;

D O I：

10.1177/11206721231178054

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

The availability of direct-to-consumer genetic testing (DTCGT) for age-related macular degeneration (AMD) provides the public with access to disease risk estimations that may be used to guide lifestyle adjustments. However, AMD development risk is more complex than can be captured by gene mutations alone. The methodologies employed by current DTCGTs to estimate AMD risk vary and are limited in several ways. Genotyping-based DTCGT is biased toward European ancestry and only considers a limited number of genes. Whole genome sequencing based DTCGTs uncovers several genetic variations with unknown relevance, making risk interpretation challenging. In this perspective, we describe the limitations of the DTCGT for AMD.

引用

页码：2059 / 2061

页数：3

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