Are the muddled laws and ethical questions surrounding privacy of genetic data impeding pharma research?

With personalised, precision medicine now a reality, genetic research is more important than ever. “When genetic researchers have more data they can make better diagnoses and find new areas of interest within that data,” says Eugene McDaid, bioinformatics specialist and director of Paramount Recruitment, who is working in partnership with Genomics England on its 100,000 Genomes Project, the world’s largest national sequencing project.

To gain access to this data, the public may have to be willing to share their own genetic information – but is this something they want?

“Our world is really changing about privacy,” said Dr Patrick Gaudray, director of research at the Centre National de la Recherche Scientifique at the Université François Rabelais, when he spoke at the UAE Genetic Diseases Association’s (UAEGDA) International Genetic Disorders Conference in October 2016. “The notion of privacy has adapted to the internet and the spread of social networks. The meaning of privacy is changing a lot; it now relates more to the personal choice of what can be shared.

“We have to make a distinction between what is permitted and what is forbidden. Genetic information is particularly volatile. It doesn’t know any boundaries and it doesn’t respect borders. Even biological samples travel; a French cell could be analysed in Spain.”

McDaid adds that sharing your genetic data raises a whole host of questions: “If you provide this data, could it be used against you in the future? Could you be discriminated against for treatments? If you’ve been advised not to live your life a certain way because of your genetics, should the NHS be paying for treatment if you live like that anyway? If there are signs that you have the potential to get a disease from your genetic makeup, should the doctor tell you, and do you even want to know? If you find out do you tell everybody else in your family that it’s genetic and that they should go and get checked themselves?”

There are currently no easy answers to these questions, although it is clear that such worries may put some people off sharing their data. This could be problematic for the pharma industry.

“In order to get medicines that help people live longer, we’re going to need people to donate their genomes for the sake of medical research,” says McDaid. “But although research has shown that people are happy to donate their genomic data for medical research, they don’t want insurance companies or pharma companies to have access to it. They don’t want people making a profit out of their data. But if the pharma companies can’t have access to the data they can’t develop the drugs that are needed. This may stem from a lack of understanding of how drugs are actually developed, and the industry could help by providing more education about their work.”

Lilly Taranto, a senior associate in the Global Privacy and Cybersecurity practice of Hogan Lovells, says that transparency is often the biggest issue for patients: “Often when patients are provided with consent forms, they are very long, difficult to read, and they don’t necessarily include all the information about what can be done with their genetic data. It can be quite frustrating for patients if they find out later on that the data was used for things they didn’t know about. Many times patients don’t know that research and technology evolves pretty quickly. It’s difficult to understand how many things can be done with data. If consent forms were more transparent it would be easier for patients to take part in studies.

“It’s also a challenge for pharma because sometimes samples that are collected are kept for a long period of time. Researchers later find out they can use them for different studies and it’s difficult to trace the individual again. Sometimes the sample may not be used because the consent form does not cover this additional study.”

Genetic law

This is made more difficult by the fact that privacy legislation does not cover genetic data specifically, instead regulating sensitive data, such as health, in general.

However, this is going to change in 2018 with the EU’s new General Data Protection Regulation, which the UK government has said it will implement. This will include specific regulations for genetic data, containing the definition of genetic data and laying out how and when it can be used.

“At the moment life sciences are fairly restricted on the use of genetic data,” says Taranto. “It can only be used with the explicit consent of the patient. But the new legislation allows genetic data to be used for scientific research purposes. It takes into account the fact that there is a need for the life sciences industry to do research using genetic data, and the good thing is that ‘scientific research purposes’ can be widely interpreted.

‘In order to get medicines that help people live longer, we’re going to need people to donate their genomes for the sake of medical research’

“Companies will still need to have some guidance from the regulators in each country to understand how far they can take it. At the moment the legislation should also cover research that is privately funded but some countries might require it to be for public interest, while other states might say that research for your own profit is fine. We don’t know, we’re going to have to wait, but it’s a good step forward that this legislation takes into account that we need to do research with genetic data and that can be done without the patient’s consent.”

But global laws and regulations surrounding genetic data can still be a bit muddled.

“There is a major difference between the global world that we are living in and the law that is embedded in local life,” Gaudray said at the UAEGDA conference.

“I’m French, so let me take the example of France. Most French rules stem from the 1994 bioethics law. The principle is to limit the use of genetic tests for medical and scientific research purposes, protecting against the risk of discrimination; the laws are supposed to be very restrictive. But France has also signed and recognised the EU’s Convention of human rights in biomedicine in 1997, and as a citizen of the world my genetic information is also protected by the Universal Declaration on the Human Genome and Human Rights, which was also published in 1997.”

McDaid agrees: “The struggle will be to get a formal, global agreement of the use of genomic data, because research teams across the world have all got access to this type of data.”

Researchers are also having similar problems with electronic medical record data: “To make greater advancements researchers need to combine genomic data with medical records – then they are able to really pinpoint symptoms, diagnosis and treatment a lot quicker,” says McDaid. “But the problem is that electronic medical records are private in the US and UK, even though that’s the information that pharma companies really crave. That’s the challenge with having privacy with medical records.

“I think medical records will always be treated as private – the question is whether people allow their medical records to be used along with genomic data. That would be the next step, but it raises the same questions as genetic data privacy.”

“I think right now we have to accept that we are at the beginning of the process,” Gaudray concluded at the conference. “We have to accept that we don’t know everything and we probably don’t know how to behave in front of all this information, without everyone working together.” 