The field of genomic medicine is still making steady progress. The National Human Genome Research Institute's (NHGRI) Genomic Medicine Working Group chose 10 papers with the most significant advancements in the field in a report published in December 2019. We highlighted five of these publications in our 2019 year-end blog based on their potential to have an immediate impact on clinical practise and public health.

2020 sees us doing it once more! A new list of the top ten scientific breakthroughs has been compiled by the NHGRI Working Group from among the 45 acknowledged successes that were published in the last year. We chose the four programmes whose implementation studies were conducted across the entire population.

Journal of Clinical Genetics and Genomics

An open access journal called Journal of Clinical Genetics and Genomics publishes articles with the goal of figuring out how particular gene mutations affect phenotypes and how to use that knowledge to create novel therapeutic strategies. This publication attempts to close the gap between the lab and healthcare facilities through the articles it publishes.

Using population-based whole-genome sequencing for rare disease diagnosis

WGS is being used more frequently to determine the genetic origins of uncommon disorders. WGS has, however, primarily been utilised in specialised facilities as opposed to on a national level thus far. The working committee settled on a study carried out at 26 hospitals abroad and 57 National Health Service facilities in the United Kingdom. Over 13,000 patients' WGS findings were examined, and 75% of them had either a rare disease or another uncommon trait. In 16 percent of patients, a genetic diagnosis was made, which some patients used to guide their treatment choices. The study demonstrates the diagnostic value of genome sequencing as well as how it can be used in various populations.

Using Population-Based Genomic Screening to Detect and Treat Genetic Conditions: An Evaluation

The working group selected two population screening studies for three genetic diseases for 2020 that our office has deemed Tier 1 submissions (hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia). In the first study, those who had a pathogenic or likely pathogenic variation in a tier 1 gene detected through Geisinger's MyCode Community Health Initiative were studied using electronic health records (EHR). The second study describes the use of DNA-based screening to identify identifiable monogenic risk for these three illnesses in over 26,000 Healthy Nevada Project (HNP) individuals. Both studies demonstrated that the three genetic disorders are present in 1% of unselected groups and that most participants are unaware of their heightened risk.

Exome sequencing's role in newborn screening for inborn metabolic errors is being evaluated.

A well-known public health initiative called newborn screening (NBS) screens all newborns at delivery for uncommon, curable diseases that call for prompt treatment. The primary screening technique for inborn metabolic errors is tandem mass spectrometry (MS/MS) (IEMs). The working committee settled on research evaluating whole-exome sequencing (WES) as a support technique for MS/MS at the NBS in California. Data and residual dried blood spots from 4.5 million newborns were collected for IEM cases. Compared to MS/MS, which had a sensitivity of 99% and a specificity of 99.8%, WES was found to have a sensitivity of 88% and a specificity of 98.4%. WES can be helpful as a secondary test for newborns with aberrant MS or MS screening results, despite the fact that it is typically not sensitive or specific enough to be used as a main screen.

Assessing the Whole Population with Non-invasive Prenatal Testing as a Prenatal Screening Test

Noninvasive prenatal testing (NIPT) is a new genomic technology that uses circulating foetal cells in the mother's blood to perform whole-genome sequencing.Although the test's accuracy as a prenatal test in all pregnant women is unknown, it is becoming more widely used in the clinical management of high-risk pregnancies.NIPT was carried out in more than 73,000 pregnancies in the Netherlands for this population study. There were 343 trisomy foetuses found, and another 207 had various anomalies. The positive predictive value for trisomies 21 and 18 was >95% when NIPT was compared to invasive diagnostic testing (such as amniocentesis), but it was significantly lower for other abnormalities. These findings demonstrate the potential utility of NIPT for population-wide trisomy 21 and 18 pregnancy screening.

What's Next for Genomic Influence on Public Health?

Four promising areas for public health genomics in 2020 include the diagnosis of rare diseases, newborn screening, non-invasive prenatal testing, and adult genetic screening. Pilot or proof-of-concept population-based implementation studies are the focus of the highlighted papers. Before evidence-based recommendations can direct the implementation of public health, more data are required on implementation, advantages, drawbacks, and costs. Keep an eye out for these four fields, as well as other developing genomic applications, in the coming years.

MANUSCRIPT SUBMISSION:

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