Instrumented Interconnecteds Intelligent
March, 25th 2015

Ajay Royyuru

Ajay Royyuru, PhD and Director, Computational Biology Center at IBM Research

By Ajay Royyuru

A physician once told me that “your genes load the gun. Your lifestyle pulls the trigger.”

We were talking about how genetics play a role in the likelihood of a disease manifesting itself – and how the way we live also influences that likelihood. And it’s getting easier and faster for doctors and scientists to precisely understand which genes influence which diseases, and by how much.

This improved access and understanding of the genome, though, brings up challenges to the notion of ownership, consent, and privacy. Should a patient ask her siblings, parents and grandparents for permission to reveal genetic information? How much of a person’s genome should be tested, disclosed, or archived, per analysis?

Currently, we know of about 15,000 disease informing mutations within the 3 billion positions in our genome.

Accessing your genes

Parental contribution only tells part of the story about our personal genome. We know that germ line genes – genes you are born with and persist over generations – can mutate and cause cancer, or diseases like cystic fibrosis and sickle cell anemia. And we can even test for a few hundred of the germ line’s Mendelian inherited diseases, such as Huntington’s, because they’re caused by a single gene. New York State, for example, tests every newborn child for about 40 genetic diseases that otherwise may not be identified at birth, but that may cause illness, mental retardation, or even death if not treated in the first weeks or months of life. Still other mutations are somatic; the result of changes to your genetics after birth. This is where a predisposition for certain cancers or diseases, from hypertension to Type-2 diabetes, interact with lifestyle.

It’s also where the issue of privacy gets nuanced.

The National Institutes of Health considers germ line information re-identifiable. It’s been shown that anonymous genetic data can, indeed, still identify individuals by connecting it with publicly available information.1 Genetic data describing somatic mutations is considered non-identifiable and therefore disclosed and disseminated with lesser concerns.

That identifiability is due to the fact that there is nothing more unique than your genome. It’s the difference between knowing someone’s cholesterol number, versus the genetic elements that influenced that number. The latter is more specific and closer to uniqueness, hence a greater aid at identifying that person. And it might also identify members of that person’s family.

Protecting your genes

My team studies these aspects of genomics research and privacy in our work on precision oncology, looking at treatment options based on somatic mutations that drive cancer. And 10 years ago, during our Genographic Project, we realized the definition of genetic privacy had to be broadened to the workplace. The policies established for that project later laid the first-of-its-kind legislative ground work for the 2008 Genetic Information Nondiscrimination Act (GINA).

As identifying genes, and processing entire genomes gets better and faster – and we discover more connections between genes and diseases – we will need new kinds of privacy protection. One area I’m exploring is around the fact that identifiability is not a binary attribute. Gene commonality ranges from the individually unique to across the populace. We need to ask: what is a more sophisticated metric for the identifiability of our genetic data?

Register for the Computer History Museum’s Techonomy BIO on March 25, where Dr. Royyuru will discuss “Who Owns Your Genetic Data?” and “The Internet of (Bio)Things.”

  1. Privacy protections: The genome hacker


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A physician once told me that “your genes load the gun. Your lifestyle pulls the trigger.” – I agree…..

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On the day IBM Watson Health is announced I read this excellent piece by Ajay.
I am lead to the conclusion that we should actively discuss these issues in as many forums as possible, we need to influence law makers globally to ensure that data is used in the best interests of an informed person. Personal information about our health can and will be used in so many ways which are detrimental to individuals and their families.
I am reminded by Chris Andrews – Is the inventor is prepared to use his invention on himself and his family.
I do not want my children to be discriminated against for my lifestyle choices or my genetic inheritance – that is where this technology leads if we do not fully understand the ethics of implementations, we must be prepared to say NO. Or YES with the necessary protections.

Posted by: Tony Shield
April 13, 2015
6:50 pm

Yes we can ! By use of amniocentesis method we can detect for example Down syndrome, Patau syndrome, Edwards syndrome. Maybe by use PCR methods combined with more sophisticated biochip analysis we may detect more bad disease in future. But detection is one, second is possibility to spread bad disease over body and third is treatment. Even if we are clan from “bad genes” we still may got cancer. Some of mutations cannot be repaired easy, some are lethal in early stages of development – cyclopy for example. Other thing is that we are still try to understand human development and it’s control at all. Just imagine – from one cell to whole Your body, with cell’s, tissues and organs and whole systems of organs. What a level of control … where time, cell divisions, cell structure !!!! and uncountable number of more is controlled. Thus one more thing … this cell know what was constructed in the body ! Well research in this may be a purpose … for whole life time :)

Posted by: JacekP
April 13, 2015
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Interesting article. Research has reached that point.
How can we stop genetic mutation? Can we detect genetic mutation in person from birth and say this will lead to cancer or some bad disease?

Posted by: Z
April 13, 2015
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I like this Article.

At some point, if we are able to store the historical illness and medical event analysis of our parents and their parents, including the information about their genes & information about their life style, .. and match/super impose similar analysis of our genes and life style, I feel that we must be able to predict the deceases and medical event that we may get impacted & time when it may occur.

Posted by: Arul
April 13, 2015
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“your genes load the gun. Your lifestyle pulls the trigger.” Interesting article and developments … and the saying. I find it somewhat perplexing however that research and/or treatment seem to be focused on what “loads the gun” instead of what “pulls the trigger” – the symptom rather than the real cause.

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April 13, 2015
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It is said “your genes load the gun. Your lifestyle pulls the trigger.” One question arise – what is natural environment – gut itself ??

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Excellent article with a wonderful beginning analogy! Keep up the great work…

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