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NHGRI's Mark Guyer retires, played leading role in the Human Genome Project

Mark Guyer
When Mark Guyer, Ph.D., accepted a position with the fledgling Office of Human Genome Research (OHGR) in 1988, he didn't know what to expect. He had left the National Institute of General Medical Sciences, where he was a program director and staff liaison to the Human Genome Project (HGP), to join OHGR because he felt the program "needed a skeptic" at that very early stage in its development. He also couldn't turn down an opportunity to work with Nobel Laureate James Watson, Ph.D., co-discoverer of the DNA double-helix structure, who was leading the NIH effort in the HGP.

Now, more than two and a half decades later, Dr. Guyer is retiring from federal service and looking back on a career that saw him play a critical role in the HGP and countless other genomics programs at what later became the National Center for Human Genome Research (NCHGR) and, ultimately, the National Human Genome Research Institute (NHGRI).

As one of the first employees hired at OHGR after Elke Jordan, Ph.D., became director in 1988, Dr. Guyer helped shape the new and evolving organization. A year later, OHGR became the NCHGR, with a budget and the ability to award grants.

"Mark came with a great understanding and knowledge of the latest technologies," Dr. Jordan said. "He became the go-to person for people to discuss issues with grants and bounce ideas off of - he was the glue that held the program together. He had vision and depth of knowledge and was easy to talk to. He had the confidence of those in the scientific community."

Over the years, Dr. Guyer has worn many hats. He calls himself an "enabler." He doesn't take credit for the grand vision of the Human Genome Project - he says that belongs to others, such as Dr. Watson and current NIH director Francis Collins, M.D., Ph.D., who later led NHGRI. But he will admit to contributing to making the various parts of the HGP come together as a working project, and the OHGR, NCHGR and NHGRI as organizations.

The HGP was unlike any biology project the participants had ever worked on before, he said.

"We all played many roles - we had to create the HGP infrastructure ourselves," said Dr. Guyer. "When we became a center, we hired people for grants management, research and running the centers - the project became more of a reality. But it was controversial. Many doubted a project of this size could be done, and we had to constantly respond to criticisms."

If Dr. Guyer wasn't quite the architect of the HGP, he certainly was on the ground helping direct traffic, making sure operations ran as smoothly as possible. He helped write a series of five-year strategic plans between 1990 and 2003. He played a role in the development of the "Bermuda Principles" in 1996, which laid the foundation for widespread data sharing among scientists. Data sharing has since become a fundamental part of most large genomics consortia and projects. Dr. Guyer wrote the Bermuda Principles meeting report, which was published in Genome Research.

"Mark was indispensable to so many aspects of the Human Genome Project," said Dr. Collins. "He was there at the beginning, and his leadership helped usher the HGP and a nascent genomics field through many growing pains to ultimate success."

Dr. Guyer said that his relationships with scientists have been a great source of satisfaction for him over the years. It was important to him, he said, "to have collaborations with the participants in the Project, and not be seen as only a bureaucrat."

In 2002, Dr. Guyer was named director of the NHGRI Division of Extramural Research, now known as the Extramural Research Program. At NHGRI, he said, others managed programs and grants while he played more of a consultant role, which he preferred. He had a hand in helping to establish programs such as the 1000 Genomes project, the Large-Scale Genome Sequencing and Analysis Centers, the Ethical, Legal and Social Implications (ELSI) research program, The Cancer Genome Atlas project (TCGA) and others.   

"Mark has brought an incredible wealth of knowledge and experience to his many different roles at NHGRI," said NHGRI director Eric Green, M.D., Ph.D., who appointed Dr. Guyer deputy director of NHGRI in 2011. "He's had an impact on nearly every major program at the Institute, from the development of the ELSI program and genome sequencing centers to most recently, the Human Heredity and Health in Africa program. His counsel will be greatly missed."    

Jane Peterson, Ph.D., led the research centers program that focused on mapping individual chromosomes during the early phase of the HGP, and later helped establish and manage the flagship genome sequencing centers program. She said that Dr. Guyer - who served as Dr. Jordan's deputy - "was the intellectual force that held us together."

"Mark would help resolve problems, and would step in at key moments when someone needed to help define a strategy or direction," she said. "He is an excellent writer, and was indispensable in framing questions and understanding ways that they could be answered."

Drs. Peterson and Guyer formed a strong partnership that continued in different ways and through various projects over the years, including the Human Heredity and Health in Africa (H3Africa) initiative, an NIH Common Fund program aimed at building genomics research capacity on the African continent. 

Dr. Guyer received a bachelor of arts degree from Amherst College in Amherst, Mass., in 1966, and a Ph.D. in bacteriology and immunology from the University of California, Berkeley, in 1974. Prior to joining NIH in 1986, he worked at a Maryland biotech start-up company. "At Genex, we had to do everything ourselves, and every decision seemed like life and death," Dr. Guyer said. The experience helped prepare him for his many roles in the HGP, which he referred to as "in very real ways, a true start-up operation."

He is most proud of "whatever contribution I have made in changing the culture of science with respect to the value of team science," he said. "Large projects such as the Human Genome Project have enabled the science to be done on a larger scale, at lower cost, and with higher data quality than individual scientists and groups could have done themselves. We were able to show what is possible and then take it through to completion."

Dr. Guyer also takes pride in what NHGRI has accomplished since the HGP ended in 2003. He said that many of the NHGRI extramural research programs have had a major impact on various fields of study. "The 1000 Genomes project has changed approaches to studying complex disease," he said. "ENCODE (the Encyclopedia of DNA Elements) has had a major impact on functional genomics. TCGA has forever altered our understanding of the genomic underpinnings of cancer.  You could argue that each of these provided foundational data-gathering that investigators needed for pursuing important biological problems." 

It is notable that Dr. Guyer isn't retiring completely; he is planning to return to NIH and NHGRI on a part-time basis to work on H3Africa and another program he helped nurture, the Big Data to Knowledge (BD2K) initiative, which aims to develop new approaches for using large datasets in biomedical research.

At the last staff meeting of the NHGRI Extramural Research Program that Dr. Guyer attended, he told his NHGRI extramural staff colleagues, "No matter how difficult the tasks were, I can honestly say that I wouldn't have wanted to be anywhere else than here, tackling them with you."

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Posted: July 3, 2014