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Atlantis Medical News

A pilot study analysing the effect of whole genome sequencing in healthcare


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UPDATED

11 DEC 2019


In the U.K, to understand the feasibility and psychological acceptability of genetic screening in a primary care setting, including how it changes clinician’s management decision, a pilot study is done.

Whole genome sequencing reports all nucleotide base in the entire genome. The falling cost, increasing case of application and nature of whole genome sequencing will eventually make it the leading platform used to define an individual’s genetic profile.

This study in future will give the understanding of how whole genome screening could be carried out by professionally trained practice nurses supported by consultant genetics.

The hundreds of thousands of variations detected by whole genome sequencing in an individual’s DNA can have phenotype consequences. The DNA variants to the family history could affect diagnosis, planning of therapeutic interventions, although it remains to be determined for most clinical conditions. The greatest value is seen when whole genome sequencing finds certain rare DNA variants of large size that completely underlie a disease phenotype. In contrast, common DNA variants with small effects are associated with minor increases in risk of Complex polygenic disease, because they are not directly causative, their clinical benefit is less certain.

Whole sequencing is helping to map the burden of somatically acquired variants in tissue, thus shifting the concept of cancer treatment from one based on anatomic site or histology to the molecular genetics feature of the tumour. The imminent broadened application of whole genome sequencing data should hasten research to clarify the pathogenicity of DNA variants. There are negative implications too if the risk associated with a variant is incorrectly attributed.

Whole genome sequencing is currently available and is being attributed by trained nurses in clinical settings. The widespread availability and use of whole genome sequencing in the practice of clinical medicine is imminent. In future, sequencing of individual genome will be inexpensive. Developing standards for procedure for the use of whole genome sequencing information in clinical medicine is an urgent need. It is believed that whole genome sequencing will be used in many ways. In healthy patients, physicians will use the result of whole genome sequencing to derive right into future health risks and inform prevention and surveillance efforts, a category referred to as General Genomic Medicine.

“Primary care is the future setting for the whole genome sequencing which will be carried out by specially trained nurses.”

Whole genome sequencing has already allowed for diagnosis of numerous genetic conditions and is changing the way to treat cancers.

Wider use of genome sequencing could empower patients and doctors but ethical concerns must be addressed carefully.

The publication of early data from the Genome Project Canada shows the way for future research that could allow whole genome sequencing to complement family history in the diagnosis and treatment of illness.

According to Michael Sandberg, the pilot study will aim to establish whether whole genome sequencing in healthy populations can have a significant impact by helping diagnose cancer and heart disease.

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