Genetic data to help find risk factors for diseases

Misha Angrist, an assistant professor at the Duke University Institute for Genome Sciences & Policy, is 46 years old. He is severly allergiic to pollen, dust, ragweed and cats. And he has experienced recurrent bouts of depression and anxiety for the last several years for which he has been taking medication since 2008.

Angrist does not fight shy of revealing these details. Neither is he cagey about doing so. Rather, he has put up these details and much more on the internet (personalgenomes. org/public/4.html) for research.

Author of Here Is a Human Being, he is the fourth person whose genome was sequenced as part of the Personal Genome Project (PGP) project which is supported by the National Institutes of Health (NIH).

One of the 10 individuals to start the pilot PGP programme in 2007, Angrist believes personal genomics will"...provoke suspicions and perhaps ulcers and force us to think about our destinies in terms of probabilities...How will I die? It might also tell us something about various "positive" traits — intelligence, memory, musical aptitude, athletic ability — and how we measure up ... or down. What will we do when our entire genomes are no longer abstractions but palpable bits of information we carry in our pockets?...A growing number of people are opting to find out. With some trepidation, I became one of them".

Today, hundreds of individuals, many of them US-based Indians, are willingly disclosing their genome sequence and other types of personal information in cyberspace. The PGP hopes to attract many more such individuals (to achieve critical mass) who will want to get their own genome sequenced.

The project hopes to use this information to understand things such as individual risk profiles for disease, physical and biological characteristics, and personal ancestries. Harvard geneticist George Church, who heads PGP, has a goal of sequencing 100,000 human DNA catalogues. The current number stands a little over 1,050.

A genome is an organism’s complete set of deoxyribonucleic acid (DNA) — a chemical compound that contains the genetic instructions needed to develop and direct the activities of every organism. DNA molecules comprise two twisting, paired strands, often referred to as a double helix. Each strand is made of four chemical units, called nucleotide bases — adenine (A), thymine (T), guanine (G) and cytosine (C). With its four-letter language, DNA contains the information needed to build the entire human body.

The human genome contains approximately 3 billion of these base pairs, which reside in the 23 pairs of chromosomes within the nucleus of all our cells. Each chromosome contains hundreds to thousands of genes, which carry the instructions for making proteins. Each of the estimated 20,000-25,000 genes in the human genome makes an average of three proteins. Sequencing means determining the exact order of the base pairs in a segment of DNA.

Church’s efforts are paying dividends. This November, Church, a geneticist at Harvard Medical School, was announced as one of the 2011 winners of  the Bower Award and Prize for Achievement in Science this November. The Franklin Institute has been giving these awards since 1824. Earlier winners include Albert Einstein, Orville Wright, and Marie and Pierre Curie. With the advent of cheap and fast sequencers, full genome personal genomics is fast becoming a reality. The 1,000 Genomes Project, for instance, is the first project to sequence the genomes of a large number of people, to provide a comprehensive resource on human genetic variation.

The first human genome sequence, completed in 2003, cost around $2.7 billion. With it, concluded the Human Genome Project (HGP). However, the deluge of data and related technologies generated by the HGP and other genomic research presents a broad array of commercial opportunities. Established companies are scrambling to retool, and many new ventures are seeking a role in the information revolution with DNA at its core. IBM, Compaq, DuPont, and major pharmaceutical companies are among those interested in the potential for targeting and applying genome data.

Recent improvements in sequencing technology ("next-gen" sequencing platforms) have sharply reduced the cost of sequencing. Today, the cost of sequencing a whole genome hovers around $10,000. By next year, the cost is expected to touch around $3,000 while the costs are expected to dip to around $1,000 by 2014. Prospective PGP participants are asked to familiarise themselves with all aspects of the project, including eligibility criteria, benefits, risks, and study protocols as outlined in the consent forms. There's an entrance exam too for which an educational study guide has been developed by the Alan & Priscilla Oppenheimer Foundation.

Skeptics point out that several ethical issues which need to be thought about carefully. Besides, there's the danger of genetic discrimination on the grounds of information obtained from an individual’s genome.