Opinion

The Great Debate

Privacy and whole genome sequencing

By Amy Gutmann
October 11, 2012

The price of sequencing your whole genome is dropping so rapidly that it soon may cost about $1,000 to know your entire genetic blueprint. Our whole genome sequence data can reveal predispositions to diabetes, cancer or psychiatric conditions. It can even help a doctor prescribe the right dosage of certain medications. It will soon be less expensive to sequence your entire genome – to know its more than 20,000 genes and 6 billion DNA building blocks – than to perform some individual genetic tests for cancer or metabolic diseases.

Doctors and researchers believe that this achievement will revolutionize medicine. The ability to link variations in DNA with health and disease could mean radical new ways to predict and treat not just cancer but also heart disease, diabetes, Alzheimer’s and schizophrenia.

The issue is that these potentially lifesaving discoveries depend on large numbers of people sharing their private information to enable researchers to compare large genomic databases with relevant disease states, and sharing data is still far from risk free. Individuals are not likely to have confidence in the system until we develop and enact state and federal laws governing the use of genomic sequencing data.

Right now, in most states, almost anything goes. For instance, someone could legally pick up your discarded coffee cup and send a minuscule sample of your saliva out for sequencing to determine if you show a predisposition to neurodegenerative disease. Surreptitious genetic sequencing of this sort could become a whole new arms race in conflicts ranging from custody cases to boardroom battles – unless we act soon to bring some common sense to regulation.

Confusion has its consequences. Consider the case of Victoria Grove. A genetic test obtained through a private company came back positive for alpha-1 antitrypsin deficiency. The genetic illness means her body doesn’t make enough protein to protect her lungs and liver from damage. It can lead to emphysema and liver disease. Grove was unsure if such genetic information in her medical record might deny her health insurance or limit future employment prospects. So she didn’t tell her doctor for three years. It wasn’t until she was very ill with pneumonia and was having trouble getting the antibiotics she needed that she broke down in tears, confiding to a nurse: “I have alpha-1, and I need that antibiotic.” Today, Victoria says she wishes that her distrust of genetic privacy protections hadn’t led her to put her health at risk. Now her son still refuses to get tested for the disease, since he works for a small company and buys his own health insurance.

When people like the Groves are influenced by privacy fears in their personal healthcare decisions, they create risks for their personal health. But they are also limiting our ability to advance medical science. America’s healthcare and pharmaceutical industries will need genetic information from thousands of people to devise the next generation of therapies. But we cannot expect individuals to offer their personal genetic information for the common good if harm could come to them as a result. We need to put adequate privacy protections in place.

The Presidential Commission for the Study of Bioethical Issues recently released a report that makes 12 concrete recommendations to begin reconciling this rising tension between personal privacy and medical progress. In Privacy and Progress in Whole Genome Sequencing, we identify clear gaps in privacy protections. Our report finds, for instance, that no state or federal laws exist to address whole genome sequence data comprehensively, while specific laws designed to protect genetic information in general typically address where the data is collected and by whom – and may or may not offer protection as a result.

We need to develop and then enact a consistent floor of privacy protections covering whole genome sequence data and to prohibit unauthorized whole genome sequencing without the consent of the individual. Currently, the majority of the benefits from whole genome sequence research will accrue to society, while those sharing their data assume significant risks. It’s an unsustainable model, and a sizable roadblock in the path to medical advances, better health and potentially lower healthcare costs.

By creating a consensus on basic privacy protections and preventing unauthorized genetic testing, we can assure Americans of genetic confidentiality while encouraging our frontline warriors in the fight against disease. Whole genome sequencing is a powerful new weapon in the arsenal of 21st century medicine. To make full use of it, we are going to have to figure out how to keep it safe.

Comments
4 comments so far | RSS Comments RSS

GATTACA was a movie about just that (albeit it is a bit dated). This has been a concern for as long as the idea has been around. I would love to to send my DNA off to be analyzed, perhaps known only by a number, and protected from any sort of discrimination. Until there is more interest in furthering science than furthering coffers, I doubt much can be done that will have any lasting impact.

Posted by lukkiden | Report as abusive
 

I would be all for this if I didn’t know it would turn into a legal weapon. These privacy laws would immediately exclude people arrested, making it mandatory, like DNA logging of felons, that anyone arrested for anything have the sequencing done in order to show mental disorders or declare psychiatric conditions in a court room. I can see an entire industry, like private probation services that have a monopoly guaranteed by the State, popping up, whose sole intention is to elaborate on these conditions and keep the money rolling in by falsifying or embellishing on supposed mental conditions. Of course, like everything else, those that make the laws would first exclude themselves from it.

If it is such a good idea, and no doubt it is, there should be ample volunteers throughout the medical and scientific community to give the process momentum on its own merits and self evident benefit. No doubt those that seek laws to protect peoples privacy of information obtained from the sequencing will also be the ones who insist on it being mandatory for people to have done “for their own good”, as a step in the referral process, or standard procedure for doctor visits, etc.

Posted by LysanderTucker | Report as abusive
 

I don’t find value in seeking “predispositions”, primarily because I respect the power of self-fulfilling prophesy and placebo effect.

Posted by jbrax | Report as abusive
 

So, here’s the problem: This editorial, published eight months ago, and the publication of the Privacy and Progress Report, have not resulted in the “prohibit[ion of] unauthorized whole genome sequencing without the consent of the individual.”
The Presidential Commission on Bioethics will meet again in August, in Philadelphia, PA, where “almost anything [still] goes”. The Presidential Commission could use its influence by, for example, only convening meetings in states that enact privacy protections for whole genome sequencing, or making a concerted attempt to influence state legislators who represent members of the Commission. Yet to my knowledge, no such efforts have been made, and as a result, anyone attending the Presidential Commission’s next meeting will not have remedy if a second- or third-party surreptitiously sequences their genome from “a minuscule sample of saliva” from “a discarded coffee cup”.
There’s a chasm between publishing a Report and enacting state legislation. Publishing an op-ed at Reuters doesn’t translate into state legislative proposals. Phone calls and meetings, and grassroots intergovernmental coordination will catalyze minimum privacy floors on genome sequencing through the last couple miles.

Posted by adamclayman | Report as abusive
 

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