GENETICS & GENOMICS IN THE CLINIC
The power of genome sequencing lies in its ability to interrogate a person’s entire DNA makeup in a single test. For cases where a definitive diagnosis is not made, future re-analysis of the genome data may lead to new diagnoses that cannot be made with current knowledge. This study provides evidence that genome sequencing can be imple- mented as a first-step test in the genetic workup of critically ill newborns to reduce the time these patients and their families spend in a diagnostic odyssey. Genome sequencing will be increasingly ordered and interpreted by healthcare providers that do not have formal genetics training. As a part of the SouthSeq study, NICU physicians were trained and equipped with educational resources to help them discuss genome sequencing results with their patients. This training made providers feel more confident in understanding genome sequencing and using results to guide patient care. Studies like SouthSeq help provide the evidence needed for genome sequencing to become a part of routine medical care. n
Genome sequencing in critically ill newborns
Genome sequencing is a powerful tool for diagnosing genetic conditions. With a genetic diagnosis, doctors and patients can make better decisions about medical management leading to better patient outcomes. In a recent study, scientists used genome sequencing to diagnose critically ill infants in NICUs across the southeastern U.S. An emphasis was placed on recruiting underrepresented patient populations, including racial/ethnic minorities and those living in rural and medically underserved areas. Of the more than 600 newborns enrolled in this study, almost 30% received a definite diagnosis of a genetic condition. Disease-causing genetic changes were identified in 105 different genes. Another 14% of cases had an uncertain genetic change that is currently poorly understood.
HudsonAlpha’s Genetic Counseling team and the research laboratories of Greg Barsh MD, PhD and Greg Cooper PhD contributed to this work in programs such as SouthSeq and CSER. The HudsonAlpha Clinical Services Lab also helps sequence newborn's DNA.
REFERENCES: Bowling, K. M., et al. Genome sequencing as a first-line diagnostic test for hospitalized infants. Genetics in Medicine (2021) 24:4, 851-861. DOI: 10.1016/j.gim.2021.11.020 East, K. M., et al. Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting. Journal of Personalized Medicine (2022) 5:12(3), 405. DOI: 10.3390/jpm12030405
Migraine genetic risk factors More than a billion people across the globe suffer from migraine headaches, with 15-20% of people experiencing migraine at some point during their lifetime. Migraine is a severe, pulsating headache that can occur either with or without aura — a term used to describe additional neurological symptoms such as visual changes that occur before the onset of a migraine. The cause of migraine is not fully understood, but it is believed to involve mechanisms in the brain and blood vessels in the head. A person’s risk for developing migraine is complex and influenced by many different factors, some of which are genetic. An international consortium of leading migraine specialists performed the largest genomic study on migraine to date. A genome-wide association study (GWAS) with data from 873,000 patients, 102,000 of whom have migraine, identified regions of the genome associated with the risk of migraine. More than 120 regions of the genome associated with migraine risk were identified, including 86 previously unknown.
The large dataset size allowed for comparisons between migraine with and without aura. It turns out that there are genetic risk factors specific to each type of migraine and genetic
risk factors that are shared. Two of the
genomic regions identified contain genes targeted by recently developed migraine medications. Other genomic regions may provide clues for additional gene targets and speed up the search for new treatments. This study highlights the value of large datasets when identifying genetic risk factors for complex, multifactorial conditions like migraine. n REFERENCE: Hautakangas, H., et al. Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles. Nat Genet (2022) 54, 152–160. DOI: 10.1038/s41588-021-00990-0
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