When is genome sequencing advisable? Human geneticists in Leipzig conduct clinical reference study

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.

Background research:

Genome sequencing is the process of determining the complete DNA sequence of an organism’s genome at a single time. This entails sequencing all of an organism’s chromosomal DNA as well as DNA contained in the mitochondria. In humans, this includes both coding and non-coding regions. Genetic diseases are often caused by changes in genes or chromosomes, which can now be identified using a range of genetic tests including genome sequencing.

FAQs for the article:

Q: What is genome sequencing?

A: Genome Sequencing involves decoding all genes in an individual’s body by pinpointing each and every genetic material (both coding and non-coding) that constitutes one’s body. It provides comprehensive information about one’s genetic makeup.

Q: Why do scientists conduct genome sequencing?

A: Scientists conduct genome sequencing to better understand our biology at molecular level and help diagnose various genetic diseases that could have been passed on to us from our ancestors or developed during a lifespan due to environmental factors.

Q: Who conducted this study on advising when Genome Sequencing may be beneficial?

A: The study was conducted jointly by researchers from Broad Institute of MIT and Harvard, Harvard Medical School, and University Medical Center Leipzig.

Q: Are there any proven benefits to having my genetics sequenced?

A: Yes, conducting a full genomic sequence could provide potential diagnosis for unsolved inherited disorders or untreatable diseases with unknown origins since it covers almost whole spectrum of possible anomalies unlike older tests which only focused on suspected regions

Q: Where was this study published?

A:The findings were published in The New England Journal Of Medicine.

Q : What is „The New England Journal Of Medicine“?

A : It is a leading peer-reviewed medical journal published weekly under editorial independence by Massachusetts Medical Society since 1812.

Q : Does Genome Sequencing pose any potential risks ?

A : There are few like privacy concerns regarding storage of personal medical data . Also , certain results may cause anxiety if interpreted wrong or with understanding of full context.

Q : What does the study say about when Genome Sequencing is beneficial in diagnosing disease?

A: The research identifies certain circumstances and indications when genome sequencing might be beneficial in diagnosis. For instance, genetic diseases which don’t have a clear diagnostic path or are difficult to diagnose otherwise.

Q: How much time is needed for genome sequencing?

A: Progresses in technology have brought down the sequencing time dramatically, but it still usually takes few weeks to get the scaled up results.

Q: Does insurance cover genome sequencing procedures?

A: This depends on your insurance provider and individual policy. While some insurance companies may cover it especially when recommended by medical professional , others consider it as an experimental procedure not necessarily to be covered under general health plans.

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.

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