Abstract
Editor in Chief
As an editor, I often have too many things running through my head. Little bits and bats of ideas and thoughts. What follows is my mental housecleaning. In this issue, Contributing Editor Malorye Branca takes a look at Orchid (page 10) and its promise to use polygenic risk scores (PRS) to examine what the risks are that the genetics of two potential parents will result in a child with a higher risk of developing common diseases such as heart disease, stroke, schizophrenia, and even several types of cancer over the course of their (still to be conceived) future life.
While the company has begun marketing its service, there is still no indication of any work they are doing to get their test approved for sale—promised later this year. Worse, in the eyes of many, was the company's contention that it could use PRS to help in embryo selection for in vitro fertilization. Not surprisingly, this set off alarms among the research community, ethicists, and diagnostic developers, among others. The reaction was similar to the uproar caused a couple of years ago by Genomic Prediction, another PRS company that promised similar embryo selection techniques geared toward specific traits.
More to the point, PRS is an emerging field and its ability to predict risk is still very much in doubt. But what has me most confused, however, are some of the people backing the company—both with their money and advice—including noted population geneticist Carlos Bustamante, and Ann Wojcicki, CEO of 23andMe. What do they see that I, and a host of others, don't?
Jonathan Rothberg is at is again. A month or two ago, one of the early pioneers in DNA sequencing brought his eight-year-old company Quantum-Si out of the shadows with the announcement it would go public via the hot funding mechanism of 2021, a special purpose acquisitions company (SPAC), that would value the company north of $400 million.
Not surprisingly, Rothberg is looking to leverage semiconductor technology to create what the company dubs a “next-generation protein sequencing platform” with the intent of revolutionizing proteomics. But can he make his latest project work? Given his past disruptive innovations, I'd not bet against him, or Quantum-Si.
Finally, last issue we highlighted the efforts of researchers and the non-profit n-Lorem Foundation to create and fund hyper-personalized therapies created with custom antisense oligonucleotides (ASOs). ASOs have shown early promise to create new drugs for the treatment of as few as one patient. Because this falls so far outside the normal drug development paradigm, continued development of ASO therapies have the potential to stress the existing regulatory framework both here in the U.S. and around the world. The FDA, to its credit, has taken notice. It's draft guidance for ASO drug development promises to advance development of these very precise therapeutics.