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Personal genome, public health

The National Human Genome Research Institute has selected the Johns Hopkins Berman Institute of Bioethics to establish a "Center of Excellence" to study the ethical, legal and social implications (ELSI) of genomic research. The Berman Institute will receive three years of funding to build on its multidisciplinary expertise in the ethics of human genomics and public health, bringing the fields together in the largely unexplored but crucial study of genomics as applied to infectious disease. The center will be known as GUIDE: Genomic Uses in Infectious Disease & Epidemics.

Pandemic scares in recent years, from SARS to influenza to MERS, necessitate this research, says Gail Geller, a co-principal investigator for GUIDE and faculty member at the Berman Institute. "Infectious diseases account for a significant proportion of illness and death worldwide, across all aspects of society," Geller notes. Recent research has suggested that a person's genes can play a significant role in the severity of viral infection, and even a predisposition to death from flu.

"It is important to begin to map out and address the ELSI issues involved in the use of genomic information for major public health areas like infectious disease, as the science in this area is moving quickly," says Jeffrey Kahn, co-principal investigator with Geller and deputy director at the Berman Institute.

As an exploratory Center for Excellence in ELSI Research (CEER), the GUIDE Center will bring together a multidisciplinary team of Hopkins' global leaders in diverse fields including genomics, immunology and infectious disease, bioethics, epidemiology, public health preparedness, education, and health policy, in keeping with the intention that CEERs create opportunities for trans-disciplinary research. This team will initially explore public health genomics in two case studies of human-to-human infectious disease: pandemic influenza and Hepatitis C.

The research team will examine how the genome affects a person's response to a flu vaccine as well as to the virus. "Although vaccinations are generally safe and highly effective interventions for disease prevention, understanding more about the genetics of an individual's response may help us design vaccines that maximize protective efficacy while minimizing the potential for adverse events," says Ruth Karron, a co-investigator in the CEER and director of the Johns Hopkins Center for Immunization Research. She says that in the future, genomic information could result in the production and use of vaccines with more refined understanding of effects on particular subpopulations, which will necessitate decisions about prioritization, privacy, opt-out policies and genotyping for flu-resistant first responders.

The project will also assess the ELSI issues arising from recent Hepatitis C studies, including research conducted by GUIDE co-investigators Chloe Thio and Priya Duggal, showing that individuals with a specific variation of the gene IFNl3 had five times better response to treatment and three times better chance of clearing the virus spontaneously, without treatment. These discoveries raise important questions about disclosure of genetic status as well as the use of expensive therapies in those individuals carrying the mutation. Currently Hepatitis C is found in virtually every region of the world, with an estimated 123 million people chronically infected.

"Hepatitis C is a timely and crucial case study in the necessity of clear ethical guidance for rapidly advancing public health genomics," says Geller. "Should individuals with the IFNl3 variation receive different treatments and priority? Should reporting the IFNl3 variation be mandatory?" Kahn adds that "These are among the questions the Berman Institute's CEER will address in our Hepatitis C case study, with the goal of producing an ethical framework that can apply more widely to genomics in the context of infectious disease."

At the conclusion of the three-year grant period, GUIDE will apply to transition from an exploratory to a specialized CEER, a designation that would come with an additional five years of funding from the National Human Genome Research Institute.

The GUIDE exploratory CEER is funded by grant # 1P20HG007261 - 01.


Contact: Leah Ramsay
Johns Hopkins Medicine

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