4.5 Article

Ethnically unique disease burden and limitations of current expanded carrier screening panels

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database

Matthew J. Schmitz et al.

Summary: This study analyzed carrier frequencies in genomes and provided updated carrier frequencies based on data from diverse populations. The results highlighted the dynamic changes in carrier frequencies due to genetic variations and recommended periodic reviews for updating carrier screening panels in the future.

CLINICAL GENETICS (2022)

Article Obstetrics & Gynecology

Expanded Carrier Screening and the Complexity of Implementation

Julia Silver et al.

Summary: The use of expanded carrier screening, which can test for hundreds of genetic disorders at the same time, presents challenges and complexities due to the limited knowledge of genetic sequencing among front-line obstetric health care professionals. Urgent attention is required to address issues such as reclassification of variants, pretest and posttest counseling, and the responsibilities of health care professionals in ensuring patients understand the process of variant interpretation.

OBSTETRICS AND GYNECOLOGY (2021)

Article Multidisciplinary Sciences

Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine

Jyh-Ming Jimmy Juang et al.

Summary: This study established the first genomic database for Han Chinese in Taiwan, identifying hypertension and hyperlipidemia-associated variants and developing prediction models. Additionally, an online database for exploring racial differences in the important cardiac gene SCN5A was created, and population-specific SNVs in genes related to drug metabolism and blood clotting were discovered.

JOURNAL OF ADVANCED RESEARCH (2021)

Article Medicine, General & Internal

Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation

M. N. Weedon et al.

Summary: The study found that SNP chips are extremely unreliable for genotyping very rare pathogenic variants and should not be used to guide health decisions without validation.

BMJ-BRITISH MEDICAL JOURNAL (2021)

Article Genetics & Heredity

Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese

Chun-Yu Wei et al.

Summary: The Taiwan Biobank has collected genetic information from both high-coverage whole-genome sequencing and genome-wide SNP data of individuals with Han Chinese ancestry, revealing the full range of genetic variation in this population. The study found that some individuals carry mutations related to autosomal recessive diseases, cancer-predisposing genes, and variants affecting drug response, highlighting the potential for genetic testing to improve clinical care.

NPJ GENOMIC MEDICINE (2021)

Article Genetics & Heredity

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

Anthony R. Gregg et al.

Summary: Carrier screening initially targeted specific genetic conditions in certain ethnic groups, but with the advancement of next-generation sequencing, panethnic screening has become possible. Understanding carrier status allows informed reproductive decisions, while standardized screening methods improve testing consistency.

GENETICS IN MEDICINE (2021)

Review Genetics & Heredity

The evolving landscape of expanded carrier screening: challenges and opportunities

Stephanie A. Kraft et al.

GENETICS IN MEDICINE (2019)

Article Genetics & Heredity

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen

Kyle A. Beauchamp et al.

GENETICS IN MEDICINE (2019)

Article Genetics & Heredity

A data-driven evaluation of the size and content of expanded carrier screening panels

Rotem Ben-Shachar et al.

GENETICS IN MEDICINE (2019)

Review Genetics & Heredity

Long-Read Sequencing Emerging in Medical Genetics

Tuomo Mantere et al.

FRONTIERS IN GENETICS (2019)

Article Critical Care Medicine

Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses*

En-Ting Wu et al.

PEDIATRIC CRITICAL CARE MEDICINE (2019)

Article Obstetrics & Gynecology

Committee Opinion No. 690 Summary

OBSTETRICS AND GYNECOLOGY (2017)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Multidisciplinary Sciences

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences

Kohei Fujikura

PLOS ONE (2016)

Article Multidisciplinary Sciences

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

Jacob A. Tennessen et al.

SCIENCE (2012)

Article Obstetrics & Gynecology

A universal carrier test for the long tail of Mendelian disease

Balaji S. Srinivasan et al.

REPRODUCTIVE BIOMEDICINE ONLINE (2010)