First AMA-IEEE EMBS Medical Technology Conference on Individualized Health Care

Even though the MIT Technology Review has declared 2009 as a turning point for personal genomes, a number of legal and ethical issues surrounding the use of personal genomics remain unanswered.

Last year, when more than 100 of the world’s top geneticists, technologists, and clinicians converged on Cold Spring Harbor Laboratory in New York for the first annual Personal-Genomes conference, the main focus was James Watson’s genome. The codiscoverer of the structure of DNA was the first to have his genome sequenced and published (aside from Craig Venter, who used his own DNA for the private arm of the human genome project.) Watson sat in the front row of the lecture hall as scientists presented their analysis of his genome. They paid special attention to the number of single-letter variations or small insertions and deletions in his DNA–clues as to whether he had a genetic variation that slightly boosted his risk for heart disease or cancer. But there was very little usable information in the genome.

That has all changed. In the last year, the number of sequenced, published genomes has shot up from two or three to approximately nine, with another 40 or so genomes sequenced but not yet published. “While the numbers are still small numbers, we are starting to put this research into the real disease context and get something out of it,” says Jay Shendure, a geneticist at the University of Washington in Seattle, and a TR35 winner in 2006.  …

Unsurprisingly, a number of startups are also looking to cash in on this new trend in medicine: 23andme, DNATraits, Pacific BioSciences, Navigenics.  Some have even garnered millions of support from venture capitalists.

1. 23AndMe Completes $27.8 Million Series B Round
2. Pacific Biosciences takes $68M as genome sequencing becomes more competitive

The main products of these companies are direct to consumer (DTC) genetic testing services.  Wide spread acceptance of genetic testing continue to face multiple challenges besides price.

1. Whether data collected will be used by health insurance companies to discriminate against certain genetic pre-dispositions
2. Privacy of data collected
3. Who owns the data that gets sequenced, and whether the genes sequenced can be patented

With the recent passage of the Genetic Information Nondiscrimination Act in the United States, congress has begun to take on addresing issue #1.

The Genetic Information Nondiscrimination Act of 2008 (Pub.L. 110-233, 122 Stat. 881, enacted May 21, 2008, GINA), is an Act of Congress in the United States designed to prohibit the improper use of genetic information in health insurance and employment. The Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions. [1] Senator Ted Kennedy called it the “first major new civil rights bill of the new century” [2] The Act contains amendments to the Employee Retirement Income Security Act of 1974[3] and the Internal Revenue Code of 1986.[4] …

Issue #2 has recently begun to take center stage as deCODE Genetics filed for bankruptcy (another DTC genetics testing company, owned by venture-capital investors Polaris Venture Partners and ARCH Venture Partners).  As a symptom of potential problems to come, an investment company (SAGA investment company) will serve as the custodian for deCODE Genetics.

Privacy fears as DNA testing firm deCODE Genetics goes bust

A leading genetics company that has pioneered personal DNA testing in health assessments went bust yesterday, raising privacy concerns about the sensitive data it holds.

DNA profiles belonging to thousands of people who have paid up to £600 for internet genetic tests are to be transferred to a new organization, after deCODE Genetics filed for chapter 11 bankruptcy in a US court.

The fate of the Icelandic company, which has never turned a profit despite making a string of discoveries about the genetic origins of common diseases, has fueled fresh debate about access to DNA data  …

The third issue is perhaps the trickiest issue, and most relevant to whether any of this technology can be commercially successful in the long term. 3,000 to 5,000 U.S. patents on human genes and 47,000 U.S. patents on inventions involving genetic material have been issued so far, with many arguing that the large number of patents have completely stifled innovation. At stake in a court case filed by the ACLU in federal courts is whether any human gene or test based on it can be covered by a patent. The case in question will a precedent setting case involving the extremely important breast cancer genes BRCA1 and BRCA2.

Medical science’s expanding knowledge of the human genome has opened a promising new field of “personalized” therapeutics tailored to patients’ genetic makeup. But researchers don’t have complete freedom to explore human genes. According to the Hastings Center, a bioethics think tank, 3,000 to 5,000 patents have been issued on various gene sequences. Proponents claim that those patents are advancing the cause of personalized medicine, but the American Civil Liberties Union says they have the opposite effect. This month, U.S. District Judge Robert W. Sweet is scheduled to hear arguments in a case pitting the ACLU — joined by scientists and cancer patients — against the U.S. Patent and Trademark Office and Myriad Genetics, a company that holds patents to two human genes linked to breast and ovarian cancer. At stake is whether any human gene or test based on it can be covered by a patent. …

The landmark 1990 California Supreme Court Decision Moore v Regents of the University of California first set the tone that subjects have no property rights in their tissue or the commercial products developed thererfrom. It is still unclear the repercussions of this case on any findings that are likely to be derived from the massive databases of genetic information currently being compiled by both academic institutions and for-profit companies. For a more detailed review of the argument used on both sides of the Moore case, see Washington and Lee Law Review 61. One of the more frightening arguments used by the Regents of the University of CA (though later not presented to the lower courts) is the use of eminent domain to seize the tissue from John Moore in pursuant to Education Code section 92040, “[t]he Regents . . . may acquire by eminent domain any property necessary to carry out any of the powers or functions of the University of California.” One of the university’s functions is to be “the primary state-supported academic agency for research.” (Ed. Code, § 66500.)