Society Statements on Whole-Genome Sequencing for Rare Disease

The promise of WGS to improve diagnosis and management of rare disease is being validated in clinical practice and recognized by societies. In 2021, the American College of Medical Genetics and Genomics (ACMG) released guidance recommending the use of whole-exome sequencing or whole-genome sequencing as first- or second-tier tests in patients with one or more congenital anomalies prior to one year of age or intellectual disabilities/developmental delay prior to eighteen years of age. Medical societies across the world also recommend whole-genome sequencing as a first or second-tier diagnostic test for rare disease.

ACMG – American College of Medical Genetics and Genomics

July 2021

Patients with one or more congenital anomalies prior to one year of age OR with intellectual disability with onset prior to age 18.

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NSGC – National Society of Genetic Counselors

October 2022

Genetic testing is strongly recommended for all individuals with unexplained epilepsy, without limitation of age, with exome/genome sequencing and/or a multi-gene panel (>25 genes) as first-tier testing followed by chromosomal microarray, with exome/genome sequencing conditionally recommended over multi-gene panel.

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ESHG – European Society of Human Genetics

May 2022

It is recommended to introduce WGS analysis in a diagnostic setting when it is a relevant improvement on quality, efficiency and/or diagnostic yield.

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RACP – Royal Australasian College of Physicians, Paediatric and Child Health Division

February 2021

Any child < 10 years with: facial dysmorphism AND ≥ 1 congenital structural anomaly; OR global developmental delay/ intellectual disability (moderate to severe); Test must be requested by clinical geneticist OR pediatrician following consultation with clinical Geneticist.

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CMDA – Chinese Medical Doctor Association, Medical Genetics Branch

June 2019

Non-specific phenotype associated with intellectual disability and/or developmental delay; multiple congenital anomalies.
Clear clinical diagnosis associated with high level of genetic heterogeneity. Previously negative WES or CMA.

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Society Statements Table

Curated view of society statements supporting clinical genome-wide sequencing.

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National Projects Evaluating the Clinical and Cost-Effectiveness of WGS in Practice

The following special projects were designed to evaluate the clinical and economic impacts of rapid WGS for critically ill children. These pioneering initiatives are generating evidence of clinical utility and economic benefits that will make it easier for other institutions to follow.

Project Baby Bear

Rapid WGS for 184 newborns in NICUs in California

Findings: Saved an average of $12K to $15K per child’s genome sequenced, compared with the $9K per child cost of the procedure, for around $1.2 million net

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Program Info
Final Report

Project Baby Deer
Project Baby Deer

Five hospitals across Michigan offering rapid WGS to newborns and children up to 18 years.

Focus: Decreased hospital stays for NICU patients, which led Michigan to be the first state to mandate Medicare coverage of rapid WGS.

Clinical utility research is ongoing

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Program Info

Project Baby Manatee

Rapid WGS for 50 critically ill babies and children in Florida.

Findings: Reported a return on investment of $2.88 million.

Program Info
Final Report