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Last Posted: Jun 05, 2023
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Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
C Ching et al, Genetics in Medicine, May 13, 2023

This meta-analysis aims to compare the diagnostic and clinical utility of whole-exome sequencing (WES) versus whole-genome sequencing (WGS) in pediatric and adult patients with rare diseases across diverse populations. One-hundred-and-sixty-one studies across 31 countries/regions were eligible, featuring 50,417 probands of diverse populations. Diagnostic rates of WES (0.38, 95% CI 0.36-0.40) and WGS (0.34, 95% CI 0.30-0.38) were similar.

Rare-disease researchers pioneer a unique approach to clinical trials.
Mike May et al. Nat Med 2023 5

In the development of new treatments for rare diseases, a crucial challenge lies in the name: rare. Despite their being rare, there are many of these diseases, with more than 7,000 diseases that each affect fewer than 200,000 Americans, according to the US Food and Drug Administration (FDA). Researchers are continually trying to develop safe and effective new treatments for thousands of rare diseases, but it is difficult. Some of the most promising approaches lie in modified clinical trials and making use of real-world data.

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright et al. N Engl J Med 2023 4

A total of 13,449 probands were included in the analyses. On average, we reported 1.0 candidate variant per parent–offspring trio and 2.5 variants per singleton proband. With the use of clinical and computational approaches to variant classification, a diagnosis was made in approximately 41% of probands (5502 of 13,449), of whom 76% had a pathogenic de novo variant.

Why genetic testing should always be offered to children with neurodevelopmental differences
D Ondrasick, Stat News, April 10., 2023

As a board-certified pediatrician and the mother of a child with a rare disease, I believe the medical system is failing the rare disease community by vastly underdiagnosing genetic disorders. Most families are offered either no genetic testing at all or only limited panels that cannot find most genetic mutations. Given the benefits I have seen for my family and my patients, I urge the AAP to develop new guidelines that are aligned with the 2021 American College of Medical Genetics and Genomics practice guidelines. These recommend whole exome/genome sequencing as a first or second-tier test for pediatric patients with congenital anomalies, developmental delay, or intellectual disability.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.