Background Research:
1. Genetic diseases: These are disorders caused by abnormalities in the genome, or an individual’s complete set of DNA. They can be caused by a mutation in one gene (monogenic disorder), mutations in multiple genes (multifactorial inheritance disorders), or due to chromosomal abnormalities.
2. Genome sequencing: This is a process that determines the DNA sequence, or the order of nucleotides within DNA. It includes both complete genome sequencing and targeted panels.
3. Diagnostic practice: This refers to medical procedures used by doctors to identify diseases and conditions.
4. Broad Institute of MIT and Harvard, Harvard Medical School, University of Leipzig Medical Center are all renowned institutions with reputable research capabilities.
FAQs:
1. What is Genome Sequencing?
Answer: Genome sequencing is a laboratory technique used to determine the complete DNA sequence of an organism’s genome at a single time.
2. How can Genome Sequencing help diagnose genetic diseases?
Answer: Genomic testing can look at many or all of the genes in your body at once, which allows it to detect variants not found during routine testing even when they don’t suspect any specific genetic disorder.Early detection through genomic testing means early intervention and better health outcomes down the line
3.Can everyone benefit from genome sequencing?
Answer: While everyone has some risk for developing genetic disorders, not everyone who undergoes genomic sequencing will get useful results right away.It’s also important to remember that getting diagnosed with a genetic disorder doesn’t always mean you’ll develop related health problems.But for some people and their families who have been searching for answers to rare disease diagnoses without success elsewhere ,genomic testing —which looks broadly across our entire book of life—can finally provide answers
4.What is The Broad Institute’s role in this study?
Answer : They have worked together with other scientists around world from Germany’s Leipzig university medical centre as well as esteemed institution like harvard to prove the efficacy of genome testing for diagnosing genetic diseases.
5.Does this study mean that genome sequencing should be routinely done in clinical practice?
Answer: This study provides valuable insight into the use of genome sequencing for diagnosing genetic diseases. However, clinical implementation would depend on other factors such as cost, availability and patient consent among others. The decision about whether or not to perform a genomic test—and how it might guide your medical management ultimately lies with you
6.How will this research impact regular people?
Answer :This research could provide crucial data on advancing diagnostic process and could possibly lead to increasing usage of Precision Medicine – personalised treatment plans based on individual’s genetics, lifestyle and environment
Originamitteilung:
Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis of genetic diseases. The jointly published study provides valuable insights for diagnostic practice based on a broad dataset from research and clinical applications. The researchers have presented their findings in The New England Journal of Medicine.