Photograph: worldsciencefestival
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US President Barack Obama recently announced the two recipients of the National Medal of Science and National Medal of Technology and Innovation 2015: Dr. Mary-Claire King, Professor of Medical Genetics and Genome Sciences at the University of Washington and Jonathan Rothberg, PhD in molecular biology from Yale, pioneer in genetic sequencing technology.

Awarded annually, the Medal recognizes individuals who have made outstanding contributions in advancing the fields of science and technology.

This year predictive medicine is honored. As a matter of fact, our society is moving towards an era of predictive and personalized medicine that empowers people to take control of their health. The mapping of the human genome has created new opportunities for genetic screening tests to predict and treat disease.

Mary-Claire King is known worldwide for her major accomplishments in human genetics research.

In 1990, she was the first to demonstrate that a single gene on chromosome 17, which she named BRCA1, was responsible for ovarian and breast cancer in many families.

Her discovery is one of the world’s greatest in genetics which has revolutionized the study of numerous other common inherited diseases.

Professor King’s advocacy is to offer genetic screening to all young women, regardless of family history of breast cancer.

Mary-Claire King discussed her approach at the 2014 San Antonio Breast Cancer Symposium where she was honored with the American Association of Cancer Research Distinguished Lectureship in Breast Cancer:

“My proposal is that we offer population screening for unambiguously damaging mutations in these genes to all women at about age 30. In other words, we move beyond testing only women in severely affected families to testing women regardless of family history of breast or ovarian cancer, who can then undertake preventive action if they learn they carry a mutation.

To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.

DNA Sequencing is now cheap, prices are coming down and the quality is going up. So there’s no reason not to do this”.

Prof. Mary-Claire King, 2014

 

Many women with gene mutation leading to ovarian and breast cancer would not be identified until they develop the disease because standard diagnostics only detect present changes in the tissue. Most types of those ovarian and breast cancer can be prevented if early detected.

Ovarian and Breast Cancer risk screening tests, like Genoma’s Serenity, makes it possible. Easy, comprehensive, accurate, early and fast, this new-generation exclusive genetic tests detects BRCA1 and BRCA2 variants predisposing ovarian and breast cancer and therefore they save lives.

Mary-Claire King has won many awards and honors for her seminal contributions to genetics research, as well as her humanitarian efforts. She has applied her expertise to aid victims of human rights violations around the world.

Awardee for National Medal of Technology and Innovation, Jonathan Rothberg is best known for pioneering high-speed, DNA Next Generation Sequencing (NGS) He brought about this new technology to allow researchers and doctors to identify, diagnose and potentially develop treatments for genetic diseases. Indeed, his introduction of massively parallel DNA sequencing technology has greatly increased the speed and efficiency of genomics analysis.

Dr. Rothberg has led a major part of well-known sequencing projects, including the first human genome, and is the founder of a string of successful companies.

With his new generation exclusive screening tests, Genoma’s state-of-art sequencing platform extends predictive medicine to every person to evaluate the susceptibility to disease and determined most efficient and targeted therapies.

The new awardees will receive their medals at a White House ceremony early 2016.