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HomeHEALTHGenetic tests can reduce the risk of inherited and terminal diseases

Genetic tests can reduce the risk of inherited and terminal diseases

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It is an era of personalized medicine. A number of companies today are offering genetic tests to help patients understand their genetic profile and assess the risk for inherited and terminal diseases like Alzheimer’s and Parkinson’s.

The future of Personalized Genomics- a new analysis by Frost & Sullivan, finds that with the reduction in sequencing costs, companies are providing affordable genetic tests directly to consumers through e-commerce platform. However, the clinical accuracy of direct-to-consumer genetic tests has come under scrutiny lately.

These companies vary widely in their laboratory, analytic, marketing, and service models, as well as in their involvement of a health care provider in the testing process. The direct to consumer (DTC) tests cover a spectrum from traditional diagnostic medical testing to personal genomic screening (PGS). Single nucleotide polymorphism-based sequencing used in these tests is not as accurate as more expensive technology platforms such as whole exome or whole genome sequencing.

PGS is a type of DTC test that provides information about genetic risk for health conditions, drug responses, ancestry, and other traits (e.g., hair color, baldness, earwax type, muscle performance). This personal genomic screening is based primarily on results from genome-wide association studies (GWAS), which use markers (SNPs) throughout the entire genome (rather than in a specific gene). These small variants are common in the general populations and may or may not have known functional consequences.

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“Stringent protocols and standardization policies need to be put in place to separate medically-viable genetic tests from the ones catering to sheer curiosity,” said Technical Insights Research Analyst Madhumitha Rangesa. “The entire industry requires a gold standard approach that establishes a foundation for the development of advanced genetic tests.”


Genetic information being made available to the public and stored infinitely in a virtual space will bring with it multiple safety and ethical implications. Apprehensions on the potential segregation that could take place on the basis of genetic information, especially when providing health or life insurance, cannot be ignored. The ownership rights of genetic information are not as well-regulated as medical information, making it another cause for concern.

Genetic service companies must partner with or hire genetic counselors to clarify and explain genetic test results to end users in order to improve medical interventions, facilitate informed decisions, and raise awareness on legal issues. To ensure accuracy and credibility, small genetic testing companies are collaborating with larger laboratories that have the necessary certifications and lab protocols.

“To further enhance genetic tests, several national initiatives that boost funding opportunities have been deployed,” added Rangesa. “Organizations like the National Institute of Health are heavily sponsoring academics and industrial research to encourage innovation in this rapidly-evolving landscape.”

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Future of Personalized Genomics, a part of the Technical Insights subscription, provides technology snapshots and trends in genomic testing as well as an impact assessment of key players and their pertinent business models. Frost & Sullivan’s expert analysts thoroughly examine whole exome sequencing, whole genome sequencing, SNP-based sequencing, and array-based sequencing following extensive interviews with market participants. Technical Insights is an international technology analysis business that produces a variety of technical news alerts, newsletters, and research services.

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Taazakhabar News Bureau
Taazakhabar News Bureau
Taazakhabar News Bureau is a team of seasoned journalists led by Neeraj Mahajan. Trusted by millions readers worldwide.


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