"CEER" and "ELSI": Charting a Course for Genomic Medicine

Recently, along with the other two reference librarians at the Bioethics Research Library at Georgetown(BRL), I attended a meeting of participants in the National Human Genome Research Institute’s (NHGRI) CEER program. We presented on the BRL’s services, as related to ethics and bioethics issues in genetic and genomic research.

Source: Cover - Nature, Feb. 10, 2011

To many, CEER and ELSI may sound like an enigma wrapped in a mystery. Government organizations, and librarians are well-known for creating such acronyms. The mystery part -- ELSI -- is Ethical, Legal and Social Issues associated with biomedical and human experimentation research. 

CEER  -- the enigma -- stands for Centers of Excellence in ELSI Research, an NHGRI program to bring researchers in genome and genetic research together with researchers in the clinical and social sciences, law, bioethics and the humanities.

The initial focus of a research project is on the design stage, when it must come before an institutional review board and receive approval. Since the fields of genome and genetic research are growing so fast, genomic information is proliferating, and new technologies are emerging, for which not all the bioethics consequences can be foreseen.  Therein lies the mystery. And the CEER program is the enigma, that encourages establishment of new mechanisms to deal with these unforeseen consequences.

NHGRI's strategic plan for the future of human genome research, called Charting a course for genomic medicine from base pairs to bedside was published on February 10, 2011. 

The broad research priorities are as follows:

• Genomic Research. Particularly, the production, analysis and broad sharing of individual genomic information that is frequently coupled with detailed health information.
• Genomic Health Care. How rapid advances in genomic technologies and the availability of increasing amounts of genomic information influence provision of health care and the health of individuals, families and communities.
• Broader Societal Issues. The concepts of health, disease, and individual responsibility and how new genomic information and technologies are changing these concepts and standards.
• Legal, Regulatory and Public Policy Issues. The effects of existing genomic research, health and public policies and regulations and the development of new policies and regulatory approaches. 

There are 6 CEER centers, as follows:

• University of Washington Center for Genomics and Health Care Equality
• Stanford University School of Medicine Center for Integration of Research on Genetics and Ethics
• The Duke Center for the Study of Public Genomics
• Case Western Reserve University Center for Genetic Research Ethics and Law
• Center for Genomics and Society at University of North Carolina-Chapel Hill
• University of Pennsylvania Center for the Integration of Genetic Healthcare Technology (Penn CIGHT)

Green, Eric D.; Guyer, Mark S.; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature, 2011 February 10, 470:204-213 doi:10.1038/nature09764 [Accessed: October 27, 2011]

Race, Genetics and Clinical Medicine: What are the Connections?

Source: Palliative Care: Medline Plus
 U.S. National Library of Medicine

This study from researchers at the National Human Genome Research Institute and five other institutions is a qualitative focus group study of black and white general internists' opinions concerning race, genetics and clinical medicine.




The following questions and responses were analyzed in this study.

• Do primary care physicians believe that race is relevant in clinical decision-making?
• Black physicians were much more comfortable speaking about race than their white counterparts. All physicians believe that race is a poorly defined precept. However, there was a sense that race is medically significant in some way. The degree of that significance varied between respondents. The clinical use of particular screening tests may involve the concept of race.
• What do primary care physicians believe about the relationship among race, genetics, and disease?
• The physicians were reluctant to make connections between race, genetics and disease. Health disparities between races are not explained by genetics. Black physicians, in particular, question if genetic research is useful to address racial health disparities.
• What are primary care physicians' attitudes about the future of genomic medicine?
• All physicians interviewed were hopeful about the possibilities of personalized medicine. "Genetics may supersede the use of race in clinical decision-making". There was no difference between black and white physicians in this assessment.

The authors conclude that there is confusion concerning the correlation of race and human genetic variation. Patients may be treated differently depending on their physician's concept of race. The opinions of black and white physicians concerning race, genetics and clinical medicine were more similar than different in this study.

Bonham, V.L.; Sellers, S.L.; Gallagher, T.H.; Frank, D.; Odunlami, A.O.; Price, E.G.; Cooper, L.A. Physicians' attitudes toward race, genetics, and clinical medicine. Genetics in Medicine: Official Journal of the American College of Medical Genetics.  2009 Apr. 11(4):279-86. doi: 10.1097/GIM.0b013e318195aaf4. [Accessed October 27, 2011]

Newsflash: ACLU Requests Supreme Court Review of Myriad's BRCA1, BRCA2 Breast Cancer Patent

Source: GenomicsLawReport Blog

On Wednesday, October 12, 2011, the American Civil Liberties Union (ACLU) announced it would ask the Supreme Court to rule on a patent by Myriad Genetics, a genetic diagnostics company based in Salt Lake City, Utah, on "isolated" BRCA-1 and BRCA-2 genes, two genes that can have mutations linked to breast, ovarian and prostate cancers.


A recent District Court ruling on an appeal had upheld Myriad's patent on the genes themselves, while disallowing a patent on a method of testing.


According to Jaydee Hanson, a policy director for the International Centre for Technology Assessment (ICTA), more than 4,000 genes have been patented, including copies of genes that make up 20 percent of the human genome.


Further information can be found in this news article:


Wilson, Amanda. ACLU Will Take Gene Patent Case to Supreme Court. Published on Sunday, October 16, 2011 by Inter Press Service [Accessed October 18, 2011]

How Patenting and Licensing Affect Clinical Access to Genetic Testing in the United States

In an April, 2010 special issue of Genetics in Medicine researchers at the Center for Public Genomics at Duke University reported on a number of studies they carried out on the question of how patenting and licensing affect clinical access to genetic testing in the United States.

Image by Chris Madden

These results were first published in March 2009 on the website of the Secretary's Advisory Committee on Genetics, Health, and Society (SACGHS), which had requested the research, and then included it as Appendix A to the final report with recommendations that  appeared in April, 2010.


Conditions studied were breast and ovarian cancers, colon cancers, Alzheimer disease, cystic fibrosis, hearing loss, hereditary hemochromatosis, long QT syndrome, spinocerebellar ataxia, Tay-Sachs disease, and Canavan disease.



In his Genetics in Medicine special issue commentary, Putting patients before patents, James P. Evans explains the studies were “an effort to examine both benefits and harms that result from current patenting and licensing practices in the field of genetic diagnostics.”


The SACGHS report, based on the studies, called for legislation to exempt from claims of infringement those who use patented genes for research or medical treatment.


On the issue of the exclusivity of gene patents, he points out that where many test providers exist in a field, there may be competition to patent and then license a new test in order to gain commercial advantage.


However, he suggests exclusivity is not needed, noting that  Lap-Chee Tsui and Francis Collins, after cloning the gene for cystic fibrosis then worked to license their genetic patent to a number of public and private laboratories, who  in turn developed a wide variety of diagnostic tests for the CFTR gene.


Robert Cook-Deegan was interviewed by Norman Swan of the Australian Broadcasting Committee shortly after the April 2010 report appeared.



Patently Complicated: Case Studies on the Impact of Patenting and Licensing on Clinical Access to Genetic Testing in the United States. Genetics in Medicine. Supplement. 2010 April, Vol. 12(4): S1-S211. [Introduction: Cook-Deegan, Robert MD; Heaney, Christopher BA. Gene patents and licensing: Case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society] [Both accessed October 17, 2011]


Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests:  Report of the Secretary’s Advisory Committee on Genetics, Health, and Society, 2010.  [Accessed October 17, 2011]


Evans, James P. Putting patients before patents. Genetics in Medicine. 2010 April 12, vol. 12(4):S3-S4  doi: 10.1097/GIM.0b013e3181d79ee1  [Accessed October 17, 2011]

Diffusion of Genomic Medicine to All Communities?

 Source: Brian C. Capell, NHGRI

        

This paper describes a study of 2000 primary care physicians (n= 1120) conducted in 2002. This group was questioned concerning: 1) whether they had ordered a genetic test and 2) whether they referred a patient for genetic testing to a genetic specialist.  Physicians serving minority patients were less likely to order a genetic test for breast cancer (18% vs. 29%), colon cancer (11% vs. 18%) or Huntington’s Disease (6% vs. 18%) than physicians serving fewer minority patients.  Physicians serving minority patients were also less likely to send a patient to a genetics center or counselor (52% vs. 64%) for testing.


The authors suggest further research to determine if there are patient characteristics that lead to this difference.  Does the use of genetics services by minority-serving physicians “reflect patient preference, patient health, or whether providers are less likely to offer minority patients genetic testing.”  They conclude that the diffusion of genomic medicine into all communities should be monitored.


Shields, Alexandra E., Burke, Wylie and Levy, Douglas E. Differential Use of Available Genetic Tests among Primary Care Physicians in the U.S.: Results of a National Survey. Genetics in Medicine: Official Journal of the American College of Medical Genetics June 2008 10(6): 404–414. doi: 10.1097/GIM.0b013e3181770184.  [Accessed October 11. 2011]  

NHGRI Leaders Provide Strategic Plan

Eric Green, M.D., Ph.D. 
Credit: Maggie Bartlett, NHGRI

This paper from National Human Genome Research Institute (NHGRI) Director Eric Green and Deputy Director Mark Guyer is the 2011 Strategic Plan for the Institute. The authors describe the central mission of the NHGRI as the progression from the Human Genome Project to the goal of genomic medicine. Five domains of genomic research are identified:

Mark Guyer, Ph.D. 
Credit: Maggie Bartlett, NHGRI

1. Understanding the structure of genomes
2. Understanding the biology of genomes
3. Understanding the biology of disease
4. Advancing the science of medicine
5. Improving the effectiveness of healthcare

Numerous ethical, legal, and social issues are identified. Genomics research challenges the usual oversight system for human subject protections; identifiability, informed consent for later studies, the unique sensitivity of genomic information, incidental findings, and return of results are concerns of particular interest.


Additional issues include: intellectual property, regulatory issues for direct-to-consumer testing, concern about genetic determinism, and the unpredictability of future knowledge concerning an individual genome.


Green, Eric D. and Guyer, Mark S. Charting a Course for Genomic Medicine from Base Pairs to Bedside. Nature. February 10, 2011 470: 204-213. doi 10.1038/nature09764. [Accessed October 7, 2011]

Genetic Patents: Do they impede research, or are they ignored?* Julian Clark's view

Source: Singularity Hub: 
Science & Technology News

This article looks at the widely perceived conflict between the freedom of academic research due to its exemption from the patent process and the constraint of patent infringement that could hamper that research.

The author, Julian Clark, states that “Four basic statements dominate the current debate:

• The research exemption is untested.
• Researchers are unclear with respect to patent infringement.
• Patents are major inhibitors of research.
• Patenting inhibits publication.”

He contends that “the first two statements are largely correct but have little actual negative impact, and that the second two statements are clearly unfounded and untrue.”

He cites studies that show researchers either find a way around patents, or ignore them. To counter a recent article by Greenemeier [who is actually reporting the publication of a group of studies on the subject done by Duke University’s Center for Public Genomics], he cites studies that find no interference with research by genetic patenting.

Taking the example of the Myriad patents for the BRCA1 and 2 gene tests, he cites papers underlining that Myriad has never enforced its patents with researchers.

As a specific, detailed example, Clark writes of the experience of the Walter and Eliza Hall Institute of Medical Research in Parkville, Melbourne, Australia. He presents a table for “Key Intellectual Property Metrics” at the institute over the last ten years, and he concludes the experience of the institute “confirms the co-existence of patents and research.”

Greenemeier, L. Case studies reveal that patents can hinder genetic research Scientific American Newsletter, 2010 April 16, [Accessed September 28, 2011].

Clark, Julian. Do Patents and Intellectual Property Protection Hinder Biomedical Research? A Practical Perspective. Australian Economic Review 2011 44: 79–87. doi: 10.1111/j.1467-8462.2010.00626.x   [Accessed September 28, 2011].


*See also: Genetic patents: Do they impede research, or are they ignored? The situation in the U.K.