(Press-News.org)
Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive range of monogenic disorders. Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied.
To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn screening test, a recent study conducted by eight NBS centers and BGI Genomics was published in JAMA Network Open.
These results – from this pioneering study that incorporates gene panel sequencing into NBS as a concurrent first-tier screening strategy in a large population scale – indicate that approximately one out of every 500 newborns benefited from the integration of gene panels as a first-tier screening test.
Method and Findings:
Researchers aimed to evaluate the ability of genetic sequencing methods to detect monogenic disorders in newborns. This prospective cohort study included 29,601 newborns recruited from eight newborn screening centers in China between February 21 and December 31, 2021. Neonates with positive results were followed up before July 5, 2022.
The screen consisted of biochemical screening tests and a targeted gene panel sequencing test for 128 conditions. The biochemical and genomic tests could both detect 43 of the conditions, whereas the other 85 conditions were screened solely by the gene panel.
Key findings include:
1. Via genetic sequencing, 813 infants screened positive (2.7%; 95% CI, 2.6%-2.9%), with 402 of these resulting in a diagnosis, which is a positive predictive value of 50.4% (95% CI, 50.0%-53.9%).
2. The gene panel sequencing identified 59 patients undetected by biochemical tests, including 20 patients affected by biochemically and genetically screened disorders and 39 patients affected by solely genetically screened disorders, which translates into one out of every 500 newborns (95% CI, 1/385-1/625).
3. A total of 445 newborns were diagnosed with 13 disorders screened by both genetic and biochemical NBS, which included G6PD deficiency (328 newborns), congenital hypothyroidism and isolated HTT (94 newborns), and amino acid, organic acid, or fatty acid oxidation disorders (23 newborns). While 82 of these patients were undetected by genetic NBS (and detected by biochemical NBS), it was notable that 20 of these patients were detected by genetic NBS (while undetected by biochemical NBS).
4. A total of 328 patients with G6PD deficiency (282 male and 46 female) were identified. All were detected by genetic NBS, but 10 male patients were not detected by biochemical NBS; instead, they were confirmed in the confirmatory tests. Overall, the fluorometric assay had a sensitivity of 96.95% (95% CI, 94.48%-98.33%) and a specificity of 99.71% (95% CI, 99.64%-99.77%), whereas genetic NBS had a sensitivity of 100% (95% CI, 98.84%-100%) and a specificity of 98.61% (95% CI, 98.46%-98.75%) for G6PD deficiency.
Leveraging Genetic Sequencing for NBS
This study presents the outcomes of genetic NBS as a first-tier screening test in clinical settings, which is of great importance to clinicians, geneticists, and families for better health care and counseling.
For example, a benefit of incorporating genetic with biochemical NBS is to reduce the number of false positives. This study’s data demonstrate that the positive predictive value (PPV) of genetic NBS is significantly higher than that of biochemical NBS, except for the fluorometric assay for G6PD in female newborns. The difference was highly apparent for amino acid, organic acid, and fatty acid oxidation disorders (70.83% by genetic NBS vs 5.29% by tandem mass spectrometry; P < .001), which is in line with previous studies. Reducing the number of false positives would, in turn, relieve the stress and anxiety of parents and decrease the number of follow-ups.
The research team acknowledged that further studies and collaborations are needed to validate these findings across populations and health care systems worldwide, which will lead to the refinement and optimization of newborn screening protocols.
This project follows relevant regulations related to biological and medical research and has been approved by the Ethics Committee of eight newborn screening centers and BGI Genomics.
About BGI Genomics:
BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.
END
When people feel that their resources are scarce – that they don’t have enough money or time to meet their needs – they often make decisions that favor short-term gains over long-term benefits. Because of that, researchers have argued that scarcity pushes people to make myopic, impulsive decisions. But a study published by the American Psychological Association provides support for a different, less widely held view: People experiencing scarcity make reasonable decisions based on their circumstances, and only ...
A team of researchers, jointly led by Professor Hyun-Wook Lee and Professor Dong-Hwa Seo from the School of Energy and Chemical Engineering at the Ulsan National Institute of Science and Technology (UNIST), in collaboration with Professor Seok Woo Lee from Nanyang Technological University in Singapore, has achieved significant breakthroughs in harnessing low-grade heat sources (<100 °C) for efficient energy conversion. Their groundbreaking work focuses on developing a highly efficient Thermally Regenerative Electrochemical Cycle (TREC) system capable of converting small temperature differences into usable energy.
Conventional energy-harvesting ...
Building a mathematics-based understanding of biology at all scales of life — from individual cells to interactions between species — is the goal of a new $50 million institute supported by the U.S. National Science Foundation in partnership with the Simons Foundation. The two organizations are each providing $25 million to launch the National Institute for Theory and Mathematics in Biology (NITMB). The institute will bring together experts across the mathematical and biological sciences to explore research challenges related to a broad range of topics and industries, such as the environment, biomedicine and biotechnology.
The institute will be led by Northwestern University ...
As severe urban overcrowding is trending worldwide many underground development projects are being carried out in metropolitan centers worldwide. South Korea has experienced problems such as aging underground facilities and inaccurate information management due to rapid urban development since the 1970s and 1980s. Accident prevention has become a major challenge since accidents in underground spaces have occurred due to various causes.
The Korean government is undertaking projects to digitize underground facilities and ground information and establish a 3D underground space information database to prevent ...
The Joe R. and Teresa Lozano Long School of Medicine at The University of Texas Health Science Center at San Antonio (UT Health San Antonio) and the University College at The University of Texas at San Antonio (UTSA) are officially launching the first known program in the United States to combine medicine and artificial intelligence. A Doctor of Medicine (MD) from UT Health San Antonio and a Master of Science in Artificial Intelligence (MSAI) from UTSA will form a five-year MD/MS program enabling physicians trained in San Antonio to uniquely lead in the practical use of artificial intelligence to improve diagnostic and treatment ...
Using English as the language of instruction in higher education has a marked negative impact on learning outcomes when it is not the students’ first language, according to a new study from KTH Royal Institute of Technology and Chalmers University of Technology in Sweden. When 2,000 Swedish students were divided up into English-language and Swedish-language versions of an introductory course in programming, those students who were taught in English obtained much worse results, and more dropped out of the course prematurely.
English is increasingly used as a global language of instruction in higher education, known as English Medium Instruction or ...
TORONTO, Sept. 14, 2023 – Most wild bees are solitary, but one tiny species of carpenter bees fastidiously cares for and raises their offspring, an act that translates into huge benefits to the developing bee’s microbiome, development and health, found York University researchers.
Not unlike the positive affect human mothers can have on their offspring, the maternal care of these carpenter bees (Ceratina calcarata) staves off an overabundance of harmful fungi, bacteria, viruses and parasites in the earliest stage of development.
Without maternal care the pathogen load of these ...
To obtain the biggest cherry harvest, trees should be pollinated by both honey bees and mason bees. A new study led by a researcher at the University of Gothenburg shows yet another benefit of biodiversity.
Like many other fruit trees, most sweet cherry cultivars depend on cross-pollination to produce their fruit. This means that there need to be several different cultivars of sweet cherry trees in an orchard for the bees to transport pollen from one to another.
“Sweet cherry trees are usually planted in alternate rows of different cultivars. In some cases, you can put different cultivars in the same row, but ...
Ahead of the UN’s SDG Summit (18-19 September), Earth4All, an international team of economists and scientists, and the Foundation for European Progressive Studies (FEPS), unveil groundbreaking research showing that policymakers can ensure the implementation of SDGs by 2050. The report ‘SDGs for All: Strategic scenarios’ equips policymakers with practical solutions designed to accelerate SDG implementation and to respond to the planetary emergency. It concludes that policymakers can step up the implementation of the SDGs by 2030 and beyond ...
New research published in the scientific journal Addiction has found that the proportion of US overdose deaths involving both fentanyl and stimulants has increased more than 50-fold since 2010, from 0.6% (235 deaths) in 2010 to 32.3% (34,429 deaths) in 2021. By 2021, stimulants (such as cocaine and methamphetamine) had become the most common drug class found in fentanyl-involved overdoses in every US state. This rise in fentanyl/stimulant fatalities constitutes the ‘fourth wave’ in the US’s ...
