How genomics will predict, prevent and cure disease


marianoWhat if you could gaze into a crystal ball and see what illnesses you or your child could get later in life? Better still, what if you could make future sickness never happen?

That’s the hope of genetic and medical researchers seeking to harness the massive genetic data amassed by the Human Genome Project and other studies decoding the genes of Homo sapiens. It’s one of the 12 earth-shaking advances of the next dozen years recently covered by the Center for Strategy, Enterprise & Intelligence in The CenSEI Report’s Disruptive Technologies double-issue package of articles.

At least one person, however, doesn’t need to read one more word to be convinced about genomics and health care. Angelina Jolie had both of her breasts removed after a finding that she had a rare genetic mutation which made her susceptible to breast cancer. After the double mastectomy, wrote the actress in a New York Times column, her risk of developing breast cancer was slashed from 87 percent to just 5 percent.

Experts also see medical value in genomics. In April, the Massachusetts Institute of Technology’s MIT Technology Review hailed prenatal DNA or genetic screening as one of 10 breakthrough technologies on its 2013 list. The next month, McKinsey Global Institute, research arm of the US-based consulting firm also named genomics in its report, “Disruptive technologies: Advances that will transform life, business and the global economy.”

MGI heralded next-generation genomics as one such major advance, with an estimated economic impact of $700 billion to $1.6 trillion a year by 2025, of which 80 percent would come from applications in health care. By 2025, the McKinsey report thinks “genetic sequencing could become standard practice during medical exams.” And what makes next-generation genomics possible is “ . . . the combination of next-generation sequencing technologies, big data analytics, and technologies with the ability to modify organisms,” especially rapidly increasing computational and analytic power.

What can next-gen genomics do for health care? First, burgeoning data from fully sequenced genomes enables researchers to better understand how genes and diseases are linked. Second, it paves the way for medicine matched to a patient’s genetic makeup. By sequencing his or her entire genome and the cancer, microbe or ailment afflicting him or her, physicians would be able to tailor-fit the treatment.

In recent years, doctors employ gene sequencing mainly for two ailments: mysterious illnesses and cancer. In 2008, U.S. scientists mapped the entire human genome for leukemia, the first time that was done for any malignancy. The research team, led by Dr. Timothy Ley of Washington University, traced the genetic roots of acute myeloid leukemia, one of four general types of the blood cancer. Today, top academic medical centers around the US are “spending and recruiting heavily in what has become an arms race within the war on cancer,” the New York Times reported in April.

Mount Sinai’s Medical School, Weill Cornell Medical College, Harvard Medical School, and Johns Hopkins are among those who are competing with each other “based on the belief that the medical establishment is moving toward the routine sequencing of every patient’s genome in the quest for ‘precision medicine,’ a course for prevention and treatment based on the special, even unique characteristics of the patient’s genes.”

Last December, British Prime Minister David Cameron announced that the UK government would sequence over the next three to five years the genomes of up to 100,000 patients in Britain suffering from cancer or rare illnesses. “By unlocking the power of DNA data,” said Cameron, “the NHS [National Health Service] will lead the global race for better tests, better drugs and above all better care.”

In 2025, approximately 14 million new cases of potentially fatal cancers will be diagnosed, forecasts MGI. While most of the malignancies could remain incurable even after their genetic triggers have been uncovered, there has been progress in some cancers, such as breast, for which the drug Herceptin has been developed to address a genetic condition that could cause tumors to recur.

McKinsey estimates that, in 2025 “genomic-based diagnoses and treatments can extend lives of cancer patients by six months to two years . . . and that 20 percent to 40 percent of patients would have access to such care . . . [although]any estimates of success rates are highly speculative, given the state of development of these therapies.”

Researchers studying heart disease are likewise benefiting from the boom in genetic information. According to a 2011 article in the New England Journal of Medicine, a decade after the Human Genome Project, “hundreds of loci associated with many cardiovascular diseases and traits have been identified.”

Genetic screening for heart disease may lead to early detection and more precise treatment. An article in The Lancet medical journal detailed how a healthy 41-year-old engineer with a family history of heart disease developed a technology to sequence the entire genome for less than $5,000. He mapped his own DNA, which revealed an increased risk of heart disease. That led his cardiologist to prescribe medication.

According to MGI, genetic testing for heart disease could also help doctors prescribe the most appropriate dosage and substance mix for individual cases. By 2025, cardiovascular disease is expected to be responsible for 23 million deaths, adds the report. It projects 15 percent to 40 percent of patients to have access to genetics-based care and have their lives extended by an average of one year.

The rest of The CenSEI Report genomics article covers the benefits for Type-2 diabetes, mystery illnesses including mental disabilities of unknown causes, and the detection of likely congenital diseases of offspring still in the womb. For the full double-issue report covering all 12 disruptive technologies shaking up life, business and society in the next dozen years, email


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