A Presage of Genomics to Come.

Bioethics and the Impact of Genomics in the 21st Century, edited by Norio Fujiki; Masakatsu Sudo; and Darryl Macer, was actually published in 2001, at the dawn of the age of genomics age -- the first draft of the human genome was completed in 2000.
It is interesting to read it now, ten years later, and to see how much and how little things have changed, in public policy and in public and private genomics research. A summary of three selected chapters follows.



Credit: Manam's photos, Flickr

 In Chapter 2, Genomics and Law, Robert Kneller in 2.2, Intellectual Property and Genome Research, gives an overview of genetic patenting, comparing the U.S. and Euroopean systems, and discussing the issues of public or private patents, informed consent for tissue donors, and patents obtained by foreign concerns from work done with samples of a country's own citizens.

Erin D. Williams, in Chapter 7.2. Genetics and bioethics: the current state of affairs, p. 129-138, speaks of major bioethics issues such as informed consent, genetic counseling, handling of tissue samples and medical information, privacy and confidentiality. As well, Williams points to a need to improve accessibility in the U.S. health care system, and to the poverty of developing countries, who cannot afford to implement new genomic discoveries. She discusses developments in genetic testing, databanks and ownership of biological tissue specimens, gene therapy, DNA forensic analysis, genetically modified organism and other issues.

And in Chapter 8. Future of bioethics, health and the environment -- 8.1. Universality of bioethics in love, p. 144-146,  Darryl Macer argues that love of life is the key source of bioethics. While it is not a measurable output, he sees it as being central to what he calls universal bioethics, and what we call today global bioethics. For him it is made up of a balance of principles: self-love (autonomy); love of others (justice); loving life (do no harm) and loving good (beneficence).

Fujiki, Norio; Sudo, Masakatsu; and Macer, Darryl, eds.
Bioethics and the Impact of Genomics in the 21st Century: Pharmacogenomics, DNA Polymorphism and Medical Genetics Services. Christchurch, New Zealand: Eubios Ethics Institute, 2001. [175 p. + 170 p.] en; jap

“Firewater Myth” and Addictions Research

Using Native American populations as a case-in-point, Molly J. Dingel and Barbara A. Koenig scrutinize studies that seek to identify a phenotype for the complex behavior of addiction.


Illustration from Rutgers
University Press web page

 The authors note that the stereotype of the "drunken Indian" (also known as the "firewater myth") fosters the belief that Native Americans are biologically predisposed to alcoholism, and that genetic research protocols may unwittingly reinforce this stereotype.

One problem with such studies is the reliance on self-reported race by research participants who may well have ancestors from several continents.

Another problem is the Office of Management and Budget’s (OMB) mandate that racial categories be used in government-sponsored health research. While laudable in theory, OMB’s regulations often result in poorly designed research protocols that substitute political categories for biological variation.

The authors conclude that “...studying addiction through an exclusively biological lens allows us to ignore the long history of oppression that undoubtedly plays into alcohol use.”

Molly J. Dingel and Barbara A. Koenig. Tracking Race in Addiction Research. In: Revisiting Race in a Genomic Age, eds. Barbara A. Koenig; Sandra Soo-Jin Lee; and Sarah S. Richardson. New Brunswick, NJ: Rutgers University Press, 2008, pp. 172-197.

Genomics and Intellectual Property in Underdeveloped Countries

Soraj Hongladarom (Chulalongkorn University, Thailand) has edited a new book on genomics and bioethics.


Among other areas,  the book takes a look at views in developing countries on the human genome as intellectual property.


 - Chapter 9: Ole Döring (HGI-Charité Berlin, Germany) in "Philosophical Exploration of the Concept of ‘Property’ in Genetics and Databanking" (p. 130-140), gives three reasons against commercial use of genetic information:

Genomics and Bioethics

       - DNA is too personal to be commodified;

       - DNA is familial - we share DNA with our family

       - commercialization of DNA risks exploiting the disadvantaged.

 - Chapter 10:  Jakkrit Kuanpoth (University of Wollongong, Australia) in "Biotechnological Patents and Morality: a Critical Review from a Developing Country" (p. 141-151), takes a look at how Thailand has used exceptions for patents of living organisms, except for microbial organisms, as allowed for developing countries in the TRIPS agreement (World Trade Organization Agreement on Trade-Related Aspects of Intellectual Property Rights).  Patents on human beings, animal varieties, plant varieties, and medical (and surgical) treatments are discussed.
   
 - Chapter 11:.  Eduardo Rodriguez (University of Chile, Chile); and Fernando Lolas (Pan American Health Organization / World Health Organization, Chile) in "Social Issues Related To Gene Patenting in Latin America: a Bioethical Reflection (p. 152-170), discuss bioethical approaches to intellectual property rights versus access in human gene patenting; introduction of genetically-engineered salmon and other animal species; and biopiracy of plant resources including those involved in the traditional practices of indigenous populations.
   
 - Chapter 12. Theofransus Litaay,  Dyah Prananingrum, and Yakub Krisanto (all at Satya Wacana Christian University, Indonesia) in "Indonesian Legal Perspectives on Biotechnology and Intellectual Property Rights" (p. 171-183), focus on laws, regulations and policies on biotechnology in that country.  Concerns include biodiversity, biosafety and biopiracy. Indonesian patent law is modeled on European patents in excluding patents that contradict public order or morality.


 - Chapter 13. Brigitte Jansen (BioEthicsLaw e.V., Germany & University of Madras, India) in "Human Biobanks: Selected Examples from and beyond  Europe" (p. 184-198), writes of the situation for the genome project, biobanks and genetic testing  in India. Ownership and privacy of biobank materials by the donors are concerns, but not yet dealt with by the law. Estonia, Israel and Macedonia are also discussed.


Hongladarom, Soraj. Genomics and Bioethics: Interdisciplinary Perspectives, Technologies and Advancements. Hershey, New York: Medical Information Science Reference, ©2011. 307 p.


DOI: 10.4018/978-1-61692-883-4
ISBN13: 978-1-61692-883-4
ISBN10: 1-61692-883-2

EISBN13: 978-1-61692-885-8

Presidential Commission for the Study of Bioethical Issues V - Incidental Findings and Research Results in Genetic and Imaging Research

On February 28, 2011, at the Fourth Meeting of the Presidential Commission for the Study of Bioethical Issues, Susan Wolf, J.D. discussed  Returning Incidental Findings and Research Results in Genetic and Imaging Research*  

* [video: 11.38-30:37, see also questions at the end]

Source: Consortium on Law and Values

Incidental findings (IF) and Individual Research Results (IRRs) are an important problem -- the research subject  expects to hear about IFs, and yet up till now, research practice has been not to return them.

Internationally, more people are starting to speak of the subject's right and the researcher's duty to return IFs and IRRs.

Genetic family studies show IFs such as misattribution of paternity, undisclosed adoption, pleiotropy (one gene causing much variation), or an unanticipated genetic or chromosomal variant. In the case of misattributed paternity, preliminary results from genetic research suggest around 10% of the general research population may have this.

The increasing numbers of IFs and IRRs challenge the dichotomy between clinical and research practice once seen as fundamental.

Traditionally research has asked the narrow questions, while clinicians have had a broad duty of care for their patients.

New research technologies do address broad themes - GWAS (Genome-Wide Association Studies) for instance -- and generate many IFs and IRRs. Wolf suggested that researchers  triage these into three categories: findings crucial to inform the research subject due to  the danger of harm to them, neutral findings, and unimportant findings.

Biobanks, she added, were not designed for individuals to learn about their own genetic issues. The current retrospective application of informed consent for results is becoming an increasing source of problems for the biobank operators.


Wolf, Susan, ed. Symposium: Incidental Findings in Human Subjects Research From Imaging to Genomics. Journal of Law, Medicine & Ethics, 2008 v. 36, no. 2 (p. 216-383 includes separate .pdfs for papers) [Accessed 20110311]

Presidential Commission for the Study of Bioethical Issues IV - Ethics of Emerging Diagnostic and Predictive Tools in Genetics

Hank Greely, J.D., Professor of Law, Stanford Law School and the Stanford Center for Biomedical Ethics, School of Medicine testified on The Implications of New Biomedical Technology Relating to Neuroscience, Genetics and Stem Cell Research* at the Fourth Meeting of the Presidential Commission for the Study of Bioethical Issues.

* [video: 18:39-49:13, including questions at the end]

 Dr. Greely discussed three issues:

• 1. The development of blood tests for prenatal genetic diagnosis: In the past, prenatal genetic diagnosis has been possible only with invasive testing such as amniocentesis or chorionic villus sampling. With genome sequencing, it is now possible to do genetic testing by maternal blood sample The maternal sample contains pieces of the infant genome. Testing by this method will probably become generally available in the next two to five years. A much greater proportion of pregnancies will be tested.. Ethical issues such as abortion, eugenics, and disability rights will emerge.                                                                                                 
• 2. Whole genome sequencing for clinical purposes: In the whole genome sequence of an individual, there may be many possible genetic issues to discuss with that person.                                                                                                                   
• 3. Ethical issues include:

            - How much genetic counseling to provide,
            - Who does that counseling,
            - How is it paid for, and
            - How often are patients advised as the science advances.
         

Presidential Commission for the Study of Bioethical Issues III - Current Issues in Genetics: Challenges in Translating Whole Genomes in the Clinic

Ellen Clayton, J.D., M.D., Professor of Pediatrics; Professor of Law; Vanderbilt University, gave a presentation on Current Issues in Genetics: Challenges in Translating Whole Genomes in the Clinic* at the Fourth Meeting of the Presidential Commission for the Study of Bioethical Issues 

* [video: 0:00-11.37, see also questions at the end]

 Dr. Clayton predicts that:

• Whole genome sequencing will be become part of routine clinical care for newborns,
• Access to this information will be difficult, if not impossible to control, and
• Interpretation of this genetic information will not be limited to the medical or clinical setting.

 Challenges include: 

 Giraffe v. Quetzlcoatlus: a case of
 pleiotropy gone wild?
Credit: Mark Witton, by way of
Science, 16 January 2009, 323 (5912): 315

• Errors will occur
• Pleiotropy (a single gene influencing more than one trait) complicates risk/benefit analysis
• Understanding of genomics and genome-environmental effects is incomplete
• Patients will want follow-up even if there is no scientific basis for it. 

 In Dr. Clayton’s view, policymakers will need to determine when not to act on genomic information.

Presidential Commission for the Study of Bioethical Issues - I: Bioethics Research at NIH

In his  Feb. 28, 2011 presentation to the Fourth meeting of the Presidential Commission for the Study of Bioethical Issues* Dr. Francis Collins, Director, National Institutes of Health (NIH) and a leader in the Human Genome Project, summarized Bioethics Research at NIH  
*[Video: 48:46]

What follows are notes on his comments in the areas of bioethics and genetics: 


Dr. Francis Collins,. Photo courtesy of 
National Institutes of Health

  In the 10 years since the human genome was sequenced, he said, nearly 4000 disorders have been found to have a known molecular basis.

In keeping with advances in consumer electronics, he expects Personal Genome Sequencing will go from a cost of $8K today to $1K in the next 5 years.

ELSI research arose out of the eugenics movement that got its start not in Nazi Germany, but here in America under Dr. Charles Davenport. 

Presidential Commission for the Study of Bioethical Issues II: The State of the Science: Genetics

James P. Evans, M.D., Ph.D. of the Department of Genetics, University of North Carolina, School of Medicine gave testimony on the State of the Science: Next Generation Sequencing in Science and Medicine*  at Meeting Four of the Presidential Commission for the Study of Bioethical Issues, held February 28 – March 1, 2011.
* [video, starts at 21:40]

Image from: NIH Extramural Nexus



In his overview he gave a capsule summary as follows:

 - DNA stores information which is used to construct proteins.

 - A gene is a stretch of DNA that directs the synthesis of one particular protein. 

 - With the advent of next generation DNA sequencing, there is already an “avalanche” of Genome-Wide Association Studies (GWAS). Scientific understanding of genetic variations associated with a particular disease does not lead to clinical benefit at this time.

Whole genome sequencing can be applied as a “diagnostic tool for enigmatic patients” and as a public health tool to identify those at high risk for preventable but potentially lethal disorders.

Current issues for genetic testing include the accuracy of the tests and the discovery of unexpected incidental information.

 - Polymorphism, the substitution of one amino acid for another, may have a very great effect on an individual organism or no effect at all.