Within weeks of the Supreme Court’s historic decision declaring that human genes cannot be patented, two scientists have started a company that will democratize the human genome and give people direct access to their own genetic information - which can have an immediate impact on their health and wellbeing.

The court’s decision in Association for Molecular Pathology v. Myriad Genetics, on June 13, opened an era of genomic liberty, allowing people to look at the DNA for all of their genes – which had been hidden behind patent walls for companies that had a monopoly on such testing.

The court’s decision spurred the two scientists, Prof. Christopher Mason of Weill-Cornell Medical School and Prof. Jeffrey Rosenfeld of Rutgers, to form Genome Liberty in order to offer the public, access to low-cost genetic testing that does not need to be ordered by a doctor – although the results should evaluated by one. This would allow individuals to be proactive in understanding how their genome can affect their health decisions.

Genome Liberty, with the Supreme Court’s blessing, upends the traditional healthcare model, which has been for individuals to rely on their doctors to understand their health and to make proper medical decisions for them. More recently, people have been taking charge of their own health care in a phenomenon that has been termed participatory medicine. Organizations including patientslikeme.com and the Society for Participatory Medicine, have been leading the charge in this field to overcome inherent weaknesses in our medical system. Traditional doctors are overworked and do not have sufficient time to devote to each patient. And as doctors have become super-specialized in particular fields, coordination between many physicians for the care of an individual patient has become difficult.

Genome Liberty fills an important void in our current medical system. For example, there are clear genetic markers for many medications, that will determine whether a person will respond properly or may have extreme side-effects. These conclusions are supported by numerous scientific publications and agreed upon by experts in the fields of genetics and pharmacology. But such tests are very rarely performed before a drug is prescribed, even though they can have an immediate and critical effect on which medication at what dose is prescribed to a patient.

Such genetic tests have distinct advantages. They overcome most doctors’ insufficient understanding of, and even fear of, genetics and genetic testing. Two recent studies involving researchers from the University of Pennsylvania and Columbia University illustrate this point that a large percentage of physicians do not feel they have sufficient understanding of genetics to order or interpret such tests.

Because of the weaknesses in the current medical infrastructure, Genome Liberty will deal directly with consumers to offer our Gene-Drug Interaction Test. Here is how the test works:

• A customer orders our test on our Web site, receives a saliva-collection kit, provides a saliva sample and mails it to Genome Liberty’s certified medical lab. Our lab extracts the DNA and tests it for the genetic variants corresponding to drug responses.
• The customer receives a full report within 2 weeks to bring to their physician outlining the medications that are recommended and discouraged based upon an individual genetic profile.
• The same information contained in the report to the physician is included on a wallet card and an iPhone app so the purchaser always has the results handy when a medicine needs to be prescribed.

The test, which will cost $99, and provides lifetime information covers a large number of frequently prescribed drugs, including Plavix, Nexium, Prilosec, Zocor, Dilantin, Coumadin, Haloperidol, Abilify, Celexa and codeine. The test also looks for a condition known as Factor V Leiden that can cause dangerous blood clots when women who have the condition take estrogen either for birth-control or hormone replacement. Many of these tests are encouraged by the Food and Drug Administration with wording on the drug label, but they are not widely requested.

The test provides only immediately useful information. Many people are wary of having a genetic test performed because they do not want results that will scare them. Most people, for example, do not want to be told that they are at high risk for Alzheimer's or Huntington's diseases, which  are currently untreatable. For this reason, Genome Liberty will only focus on genetic information useful to help improve current health and allow smart medical choices.

Genome Liberty’s co-founders, Jeffrey Rosenfeld and Christopher Mason, are established leaders in genetics and the use of cutting-edge technologies to improve human health. They have published a combined 60 peer-reviewed articles in scientific publications and have a combined 20 years of experience in human genome interpretation. They were widely quoted about the effects of the Supreme Court’s gene patent decision.

Dr. Rosenfeld did his undergraduate work in biology and computer science from the University of Pennsylvania in 2001. For his graduate work, he received his Ph.D. from New York University while performing his dissertation research at the Cold Spring Harbor Laboratory. Dr. Rosenfeld is an assistant professor at the Rutgers New Jersey Medical School in Newark, N.J., where his research focuses on human genome variation. He is a member of the 1000 Genomes Project and a co-chairman of the group aimed at identifying complex sequence variations in human genomes. Dr. Rosenfeld is also a research associate at the American Museum of Natural History in New York where he is spearheading the effort to sequence and annotate the genome of New York-centric and exotic creatures. This project is currently working on the genomes of bedbugs, cockroaches, and Antarctic hot-vent sea anemones.

“My goal for Genome Liberty is to allow individuals to have control over their genetic information and to use it to improve their health decisions,” he said. “It is extremely problematic that people are being given medications that can harm them without doctors preemptively performing simple and accurate tests to check for these side effects. I hope that individuals will be empowered to become part of their medical decision making process.”

Dr. Mason completed his B.S. in genetics and biochemistry from the University of Wisconsin-Madison in 2001, his Ph.D. in Genetics from Yale University in 2006, and his post-doctoral training at Yale Medical School in 2009. In 2009, Dr. Mason founded his own laboratory as an assistant professor at Weill-Cornell Medical College at the Institute for Computational Biomedicine, in the Department of Physiology and Biophysics. Professor Mason teaches classes for the Tri-Institutional Program M.D./Ph.D. Program between Cornell, Memorial Sloan-Kettering Cancer Center and Rockefeller University, as well as for the Tri-I Computational Biology and Medicine (CBM) and also has an appointment at the Weill Cornell Cancer Center. Dr. Mason is also an affiliate fellow of the Yale Law School’s Information Society Project, where he examines the legal implications of new genomics technologies and is a co-founder of the New York Synthetic Biology Association.

“A better understanding of the genetic basis of health and disease can improve the detection, characterization, and treatment of disease that can improve and lengthen lives,” he said. “Genome Liberty will lead us into a new era of medicine.”

Gene-Drug Interaction Test

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