Technologies are evolving faster than the development of their ethical guidelines.” At the South by Southwest (SXSW) interactive event held in March in Austin, Texas, Mary Ann Roser, a journalist specializing in health issues who runs her own medical communication consultancy, thus put her finger on the principle challenge for precision medicine. Experts agree that the potential of this future-oriented approach to medicine, which involves studying the human genome, its environment and specific lifestyle, in order to provide personalized diagnostics and treatment, is immense. Nevertheless, the risks are real.

216 M


of annual budget for the precision medicine initiative

We may ask ourselves what are the issues - especially from an ethical point of view - that arise from these new procedures? In the United States, the Obama administration took steps to encourage this new approach with its Precision Medicine Initiative, provided with an annual budget of $216 million. But how much progress has been made? Below are some answers.

One of the key goals of precision medicine is to be able to uncover potential genetic predispositions to certain medical conditions so as to take preventive action before illness can take hold. Another promising aspect is that corrective applications are now able to target precise genes, and treatments can be designed for groups of people who share common characteristics. 

An expert eye

Kate Black

Privacy Officer & Corporate Counsel 

at 23andMe

Some 87% of people surveyed say that if they think their information will leave the doctor’s surgery, they won’t share it.

As regards illness prevention, there is no denying that there has been progress, but many challenges still remain. Data protection and patient privacy are sine qua non conditions if this approach to medicine is to succeed. Kate Black, Privacy Officer & Corporate Counsel at 23andMe, drew the SXSW audience’s attention to the subject, revealing: “Some 87% of people surveyed say that if they think their information will leave the doctor’s surgery, they won’t share it.” In order to reassure users, the solution, she argues, is “to build trust and data protection into the system so that people feel confident both about learning about themselves and taking tests, and also when it comes to generating vitally important data and information that will help improve both their own health and treatment systems in general.

Data privacy has become even more important now that the technology used by startups is throwing up information that could change patients’ entire lives. Kate Black tells the story of a 23andMe customer who, having taken the test, discovered when using a tool that enables people to find other members of their family who have also taken the test that his father had another child – a situation which had led his parents to divorce. Discoveries on the purely medical front can be equally perturbing. Accordingly, 23andMe has taken great care in drawing up its website information to encourage patients to talk to a genetics advisor. In order to avoid test results being misinterpreted the website states clearly that: "The test are not intended to diagnose a disease, or tell you anything about your risk for developing a disease in the future".

Therapeutic applications of precision medicine

The entire genome editing sector is working on therapeutics. There are two categories here:  the first relates to cases where there is a single genetic disorder, where a single gene has mutated, causing a particular illness; the second category relates to cancers.

Rachel Haurwitz

CEO of Caribou Biosciences

In addition to illness prevention, the aim of precision medicine is also to be able to identify a group of people with similar characteristics so as to provide closely tailored treatments.

One of the most up-to-date approaches to precision medicine is gene editing, which consists of modifying a patient’s DNA. Explained Rachel Haurwitz , founder and CEO of Berkeley-based Caribou Biosciences, regarded as one of the brightest young companies in the sector: “The entire genome editing sector is working on therapeutics. There are two categories here:  the first relates to cases where there is a single genetic disorder, where a single gene has mutated, causing a particular illness; the second category relates to cancers.” In the first category, “researchers and companies are concentrating on cells that can be edited in an adult patient to try to treat, or even cure, the illness[...]. Where one particular gene mutation is responsible for the illness, then it’s appropriate to use the CRISPR technique or another gene editing technique. This is a suitable method when it’s possible to directly reach within the human body those cells that are impacted by the disease. You extract stem cells from the bone marrow, manipulate them in the laboratory to correct the mutation and then transplant them back into the patient’s body in the hope that that will correct the anomaly,” Rachel Haurwitz told the SXSW audience.

Understanding Crispr
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As regards cancers: “On the oncology side, a lot of work has already been done in the field of immunotherapy and immuno-oncology to help the patient use his or her own immune system to defeat the cancer.” One of the techniques consists of modifying a cell and getting it to hunt down and eliminate a cancer that has already taken hold in the body. However, this is not always possible.

Ethic obstacles, yet-to-be-perfected technology and the need for regulation

We do come across parents who want us to edit their child’s embryo right away so as to get rid of any possible mutations that might cause a condition such as Parkinson’s Disease, breast cancer.  At our company that’s a red line we won’t cross,” declared the Caribou Sciences CEO, underlining: “We don’t think that’s appropriate from an ethical perspective.  Partly because the technology is still only four years old.  It’s incredibly powerful and highly promising but it’s still very early and it’s not yet 100% reliable,” pointed out Rachel Haurwitz, inviting the audience to “imagine if we were to slice the DNA at a different point from what we’d intended!” 

Quite apart from the obvious risks due to the intricacy of the genes, there is a fundamental ethical issue here. Once you authorize gene modification in an embryo, where do you set the limits?  Will we end up with a form of eugenics? The United States is one of the countries where this question has already been raised. Speaking at the SXSW event, Mildred Cho, a professor of paediatrics and associate director of the Stanford University Center for Biomedical Ethics, revealed: “Last year, when the National Academy of Sciences and a number of eminent scientists were trying to set the ethical limits in this field, they agreed that gene editing of an embryo was a line that should not be crossed, first and foremost because this modification is irrevocable, permanent.  However, last month they went back on that decision and  accepted the principle of gene editing in the embryo for specific diseases. The problem is how you define ‘disease’.  If you look back into the past, you realize that there’s a whole range of things that were once regarded as diseases that we would find ridiculous today. In twenty years’ time, we’ll probably have a different idea of what constitutes a disease. This is a line that’s difficult to hold.

So the United States has changed its mind from one year to the next but what about other countries? Can we expect to see global concertation and a single joint position on these issues? These questions will certainly need to be resolved if precision medicine is to transition from being the medicine of the future and become the medicine of today.  

By Sophia Qadiri
Managing Editor & Journalist