Science will stomach the change
Genomics are democratized.
The Human Genome Project represents one of the greatest medical endeavors of the late 20th century. Launched in 1990 with a $1 billion investment from the National Institutes of Health (NIH), the international project set out to map the entirety of the human genome and was declared complete in April 2003.
But the map of the genome only gave part of the picture. Understanding what it means, and how it makes us who we are, was the next part of the puzzle – and it’s one that science is yet to solve. But with the help of democratized lower-cost technologies, and the large-scale sequencing of populations, genomics is about to enter a new age of precision. Initiatives are already underway in Saudi Arabia, China, the UK, and the US to deepen our understanding of rare genetic diseases and accelerate biomedical discoveries.
Researchers funded by the NIH have just recently created an atlas of the stretches of human DNA that influence gene expression and thus give rise to observable traits like hair color or vulnerability to disease. And DeepVariant, Google’s new tool for analyzing genomic data is using AI and machine learning to more accurately build a picture of an individual’s genome. These developments represent a significant step toward truly personalized medical treatment.
Breakneck advances in CRISPR – cluster regulated interspaced short palindromic repeats – are opening up revolutionary possibilities in fixing genetic errors and getting right to the root of disease. For example, Intellia Therapeutics is using CRISPR/Cas9 technology to eliminate genes that potentially produce harmful proteins, to perform single point mutations, and to insert genes or replace parts of genes. The company is set for in vivo testing of candidates for treating ATTR and hepatitis B.
Get in my belly.
We’re more than our genes. In fact, we’re home to a complete microbiome – millions upon millions of microbes that live in our gut, outnumbering the human cells in our bodies by a factor of ten. Our understanding of human health will grow exponentially as we come to comprehend the interplay of microbiome and human biology and how it affects our physical and mental well-being.
IBM is working with Harvard, MIT, and others, to shed light on the human microbiome and its role in auto-immune disease. By mapping three million bacterial genes found in the human gut, the partnership hopes to better understand their role in diseases like Crohn’s, ulcerative colitis, and Type 1 diabetes.
That collaboration is just part of a growing recognition of the importance of microbiome research. The EU, for example, is now sponsoring a major portfolio of related studies. That includes MyNewGut, a multi-million-euro project to improve understanding of the interaction between diet, the gut microbiome, and human health. And MetaCardis, an ambitious multi-year project to examine the impact of gut microbiota on multi-factorial cardiometabolic diseases and their co-morbidities.
In an evolving field, partnerships will be key. The Janssen Human Microbiome Institute is working with its partners to identify the best clinical, commercial, and regulatory pathways to advance microbiome research and health solutions. They offer a ‘one stop shop’ for innovators, and have collaborated with the Mosaic platform to crowdsource solutions and share data.
As the state of the art advances, practical home-testing solutions will become commonplace. Already, Day Two can analyze your gut microbiome and create a personalized set of nutritional recommendations, based on a stool sample collected at home.
So, as we look to the next leap forward in genomics, we need to do one thing above all: listen to our gut.
Ethical questions create indigestion.
Science’s reach must exceed its grasp. But as we reach ever further into the possibilities of advanced genetics, new responsibilities emerge. With the power to bypass chance by modifying and creating lifeforms, and with an ever more detailed understanding of our individual genetic profiles, comes huge bioethical questions about safety, privacy, and discrimination.
The US Senate Committee on Health, Education, Labor, and Pensions recently held a hearing on the science behind CRISPR, covering topics from immune-oncology to genome editing. Their goal: to examine ethical concerns and possible regulatory approaches and safeguards to ensure the breakthrough technology is not misused.
Accidental byproducts or ill-thought through side effects aren’t by any means the only concern here. What are the security implications of the malicious misuse of genome editing? Hannover, Germany, hosted an international workshop in the Fall of 2017 to explore these questions over the near, mid, and long term. This kind of international collaboration will become ever more important as the science races ahead.
And who owns the fruits of all this labor? Few scientists can be expected to act in a spirit of pure altruism. But the patenting of techniques raises fundamental ethical questions. For example, Mark Zuckerberg and Priscilla Chan’s new multi-million-dollar Biohub enables researchers to retain rights to their inventions and commercialize their discoveries. The significance of this vital public interest issue will only grow as the true implications of the technology sink in.
We’re all of us – scientists, regulators, the public – in uncharted territory here. The ethical debates will continue.
 Coverage of Disruptive Science and Technology; “China's $9.2 billion precision medicine initiative could see about 100 million whole human genomes sequenced by 2030 and more if sequencing costs drop;” posted June 7, 2016