“What if you could directly and accurately test for the flu at home? What if you receive the prescription and treatment plan without having to step foot into a clinic? And what if the same principle could be applied to other dangerous diseases such as Ebola?”This is how Mammoth Biosciences’ co-founder and Chief Research Officer Janice Chen began an engaging TEDx CERN talk on revolutionizing and democratizing diagnostics. The hypothetical situation she posed is hopeful and revolutionary, one that could change the way we approach healthcare and could improve the lives of millions of people worldwide.“Self-diagnostics could play an important role in triaging individual care, reducing the burden on primary care physicians and ultimately reducing healthcare costs,” Chen told me in a recent interview. “Many gold standard diagnostic tests require sending out a sample to a centralized lab with results being delivered to the patient days to weeks later. But with innovations in molecular diagnostics using new technologies such as CRISPR, there will be improvements in the better, faster, and cheaper categories. While self-diagnosis is likely not replacing doctors anytime soon, it has the potential to improve accessibility to healthcare and reduce overall morbidity and mortality.”https://www.youtube.com/watch?v=_r-FIlX1NJYIt is unlikely that anyone presented with this alternative approach to healthcare would meet it with anything but enthusiasm. But the same person may not be so enthusiastic about it if they fully understood that data sharing -- which accelerates scientific discovery, improves technologies, and provides clinical utility -- is essential to make such a future possible, especially in a world still reeling from Facebook’s irresponsible handling of personal data and arguments about whether a terrorist’s smartphone should be unlocked to aid in a government investigation.

A framework for thinking about the ethics of data sharing

This is not to say that such a future shouldn’t be sought, or is too rife with ethical implications to be viable. We can and will transform health care with next-generation diagnostics -- but to do so ethically should be a critical component of every company’s business plan.“Data sharing can take place in many different stages of development, from research to product development to commercialization, and there are many critical considerations when it comes to data sharing, particular in the context of human subjects,” Chen says.“Some of the key areas include collecting informed consent, guaranteeing the security of data, protecting the anonymity of customers, providing transparency of data usage, and deploying a beta test for data sharing. Our health records contain lots of personal information that we may not want to share with employers, insurers, friends or even family members, making it paramount that our data is fully secured. There are certain regulations that serve to protect the privacy of an individual’s information, but in some cases advancements in technologies can outpace policies. It is important that individuals, companies, stakeholders, and policymakers play an active role to ensure that personal data is used responsibly.”She adds that it’s never too early to start thinking about these issues, emphasizing that “the ‘act first, ask for forgiveness later’ model may accelerate product development in the short term, but it comes at the expense of establishing an ethical framework from the start.”Chen is certainly an authoritative voice on the subject: Mammoth is already entering the realm of next-gen diagnostics through its CRISPR-based technology for disease detection. The company’s vision is to provide a disposable test that users can interpret with the help of their smartphone -- where they’ll receive their results back in minutes. But smartphone apps in health care risk breaching patient privacy, may suffer from insecure data storage (i.e., think auto-upload to Dropbox or Google Photos and inadvertent sharing to social networks), and could even complicate informed consent between patient and physician. These issues -- as well as many others -- are active points of discussion at Mammoth.

“As a platform company for nucleic acid detection, Mammoth is in the early stages of transitioning a technology into a product, and some of the key decisions involve selecting the right target that is clinically actionable, addresses an unmet need, and will improve patient accessibility to healthcare in at a point-of-care or even at-home setting. We are having active discussions about the ethics of data sharing to patients, providers, and researchers, how to integrate portable molecular diagnostics with electronic medical records and the larger clinical picture, how to provide appropriate interpretation of results, and how to enable appropriate counseling and privacy. We learn from companies who have both succeeded and failed in the mission towards decentralized testing and think that Mammoth is poised to set the example for effectively dealing with the ethical and technological challenges,” says Chen.

The psychological impact of self-diagnosis

Beyond the risks posed by data sharing, self-diagnoses come with potentially negative psychological impacts as well. Take HIV, for example, a disease for which self-diagnosis could be hugely beneficial for disease prevention and treatment. A positive HIV diagnosis is extremely emotionally and psychologically challenging for many people, and HIV testing centers are prepared with counseling and other mental health services. A person performing an at-home self diagnostic test for HIV may not have access to the emotional support they need at the crucial moment of diagnoses.“There are also issues of false positives and negatives that exist for any type of test, self-administered or not, so these outcomes also need to be considered for at home-testing,” says Chen, adding that ensuring access to treatment and compliance may also be more difficult with at-home testing -- all of which can negatively impact a patient’s mental wellbeing.“Telemedicine and self-testing are still relatively new technologies, and currently tests, even with appropriate hotlines and resources, cannot fully replace the type of counseling a patient receives in a clinical setting,” says Chen. “It is critical that these technologies evolve together to ensure the safety and appropriate counseling for at-home tests.”

Toward building the future of CRISPR as a search platform for diagnostics and beyond

Many of the fears that come with new technologies are rooted in misperceptions and misunderstandings about what the technology is, how it functions, and how it stands to benefit people. Public education and science communication will go a long way toward ensuring a bright future for democratized therapeutics -- and an emphasis on science communication is a core principle at Mammoth.“At Mammoth, we advocate for science communication and accessibility not only in our detection technology but also the wider implications of CRISPR in other industries such as medicine and agriculture. We believe that communication and transparency is one of many criteria towards achieving our mission to democratize diagnostics and this powerful CRISPR platform,” says Chen.While CRISPR diagnostics is a new technology, Mammoth is working to build a new, improved future that goes beyond diagnostics. Mammoth believes that CRISPR will enable the next generation of programmable tools for reading and writing the code of life, and is at the forefront of discovering and developing these tools to deliver on the promise of CRISPR. With the right focus on the ethics of data sharing, public education, and enabling others to build on the Mammoth search platform, we could soon enter a world that surpasses even our highest aspirations. As Janice Chen said at the close of her TEDx CERN talk, “What a world that would be. A world in which we not only have the ability to rewrite our genes, but where we can use CRISPR in our everyday lives to read the letters that make you and me.”What a world that would be, indeed.