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Your genetic makeup decoded for under $1,000. Are we prepared for the fallout?

Asad Ali | Updated on: 14 February 2017, 5:53 IST

It's almost like we're living out a sci-fi script. A dystopian future may soon be upon us, thanks in part to Boston-based biotech company Veritas Genetics who just announced that it can now successfully sequence a person's entire genome - an individual's genetic constitution.

For under $1,000.

The company is co-founded by Harvard Medical School professor and genetics pioneer Dr George Church.

Also read - We can now edit genes in human embryos. Are we ready for custom babies?

The cinema connect? Andrew Niccol's 90s sci-fi flick, Gattaca was a peek into 'the not so distant future' where custom-made genetically-enhanced humans are preferred over 'natural' offspring. The lead character Vincent Freeman's parents are told about several diseases that he may have to soon deal with as he ages. The parents go ahead and get their next child custom-made by a geneticist. Vincent grows up in a society that actively participates in genetic discrimination while all along he wants to travel in outer space.

Gattaca isn't quite around the corner - but the possibility just got a serious shot in the arm.

Veritas isn't just offering the opportunity to have your whole genome sequenced, it's also going to help analyse what that data means for you and your potential children, in terms of health - benefits and complications.

A digital report of the results; an app to help interact with and make sense of all the genome information; genetic counselling via video conferencing; and access to physicians - Veritas is going all-out on this project called myGenome.

The service, only for US residents for the moment, isn't completely available yet. You can pre-order though, with the doctor's approval, and tests will be shipped after March 30 according to the company's website.

We've come a long way since the Human Genome Project - a global collaborative project that aimed to sequence the first-ever human genome. It took close to 13 years and about US$3 billion.

Since then, a number of companies have tried to bring down costs and the time required to process genetic information, most notably Illumina, based in San Diego, California which also claimed it offered a US$1,000 shot at whole genome sequencing. But that cost didn't include any post-sequencing assessment. It's a bit like, say, having all the answers to a Math exam, except in some cryptographic language you can't understand.

On the other hand a lot of companies offer sequencing of specific portions of the genome. A personal genomics company 23andMe has on offer a $199 test, in fact. But it's only based on single-nucleotide polymorphisms or SNPs. In easyspeak, it'll only scan for specific genetic mutations to discover possible diseases in you.

This SNP specific sequencing is obviously far more affordable. And a lot of commercially-available genetic tests cater to small bits of the genome via gene panels (i.e., testing particular gene sets), exome sequencing (i.e., sequencing genetic regions which cover less than 1.5% of the genome) and genotyping (i.e., testing less than 0.1% of DNA positions that lie scattered throughout the genome).

The drawback? Those tests will completely miss out on more than 90% of genetic variations linked to health by focussing only on genome regions that are associated with protein encoding. The rest were at one point considered useless, in fact being called "junk DNA."

Recent evidence has, however, proved them to be equally important.

That's why Veritas is likely sitting on a goldmine. Mirza Cifric, CEO and co-founder of Veritas said in a release that "The whole genome is the new standard. At this price point, there is no reason to use anything but the whole genome, especially for any tests that are close to or more than the price of our whole genome... the whole genome is the foundation of precision medicine and a lifetime resource to maximise quality of life and longevity."

"Now that the whole genome is this accessible, it will replace all genetic tests... because it is all genetic tests, and much, much more," added Dr Church.

Its cultural fallout is likely to be much, much more as well. Take Angelina Jolie, who opted for genetic tests and found out that she has a BRCA gene associated with an 81% risk of inherited breast cancer. Jolie underwent a highly publicised double mastectomy. The result? As the Independent reported in this story, Jolie's decision doubled the number of women seeking genetic testing for breast cancer. It was dubbed simply and unimaginatively perhaps, the 'Angelina Jolie effect.'

But the question of how far we can - and should - push the boundaries of genetic engineering remain. Many doctors and researchers say that what seems harmless - indeed beneficial now - can soon turn into active meddling with the natural course of human life. None of us actively seek disease and imperfection.

But is perfection a sustainable model for human life?

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First published: 10 March 2016, 8:35 IST
Asad Ali @asadali1989

Asad Ali is another cattle class journalist trying to cover Current affairs and Culture when he isn't busy not saving the world.