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1. Genetic Testing
2. Genetic Counselling
3. Genetics Research That Might Exploit Particular Populations
4. Ethics Guidelines For Genetics Research
5. Principled Conduct Of Genetics Research
6. Some Concluding Comments
Note added on January 11, 1999



Jim Till, Ph.D.

Joint Centre for Bioethics, University of Toronto
c/o The Ontario Cancer Institute
610 University Avenue, Room 9-416
Toronto, Ontario, Canada  M5G 2M9


Genetic information is both personal and familial.  It may also have
broader implications for one's community, especially if that community may
be somewhat more homogeneous (from the point of view of a geneticist) than
the population as a whole.  The intent of these notes is to provide some
perspectives on issues related to genetic testing and to the ethics of
genetics research. 

Return to Contents


1. Genetic Testing

A NAPBC Fact Sheet, "Genetic Testing For Breast Cancer Risk: It's Your
Choice", is available at:

  • An excerpt: Since the vast majority of breast cancer cases are not due to inherited alterations in the BRCA1 or BRCA2 genes, most women would not benefit from genetic testing. For men and women with a family history of breast and ovarian cancer, genetic testing may indicate whether they have an increased chance of developing breast cancer. There are, however, many things to think about before getting tested. How best to find out about the 'many things to think about before getting tested'? A review about hereditary breast cancer, written for scientists, is available at:
  • Annu. Rev. Medicine 1998. 49:425-436 The authors are: Leif W. Ellisen, MD, PhD, and Daniel A. Haber, MD, PhD Massachusetts General Hospital Cancer Center and Harvard Medical School, Charlestown, Massachusetts 02129; An excerpt: While an extensive discussion of the controversies surrounding genetic testing is beyond the scope of this review, three important points should be raised. First, the correct interpretation of test results involves both understanding the concept of relative risk and having an index case within an individual family. Thus, a woman identified as carrying a BRCA1 mutation should understand that she is at increased risk for developing breast and ovarian cancer during her lifetime, but that there is also a possibility that neither of these cancers will develop. A woman whose family history of breast cancer has been linked to a specific BRCA1 mutation but who herself is negative for that mutation may be reassured that her risk of developing breast cancer is comparable to that in the general population. However, a negative test without a known index case is not meaningful, since absence of a detectable mutation in BRCA1 or BRCA2 does not exclude a mutation in another unknown breast cancer predisposition gene that may be present within a family. Second, the clinical utility of genetic testing for predisposition to breast cancer is directly linked to the therapeutic options available. Unlike colectomy, which is recommended for carriers of familial polyposis coli, the indications for bilateral prophylactic mastectomy and oophorectomy are controversial (51). In addition to important personal considerations about these drastic surgical procedures, concern exists about the risk of cancer arising within breast tissue remaining after a simple mastectomy or within ovarian rests in the epithelial lining of the peritoneum (52). More conservative approaches, including frequent screening that includes mammography and ovarian ultrasound, or the use of anti-estrogens as chemoprophylaxis, are unproven. A major clinical challenge will, therefore, be to define appropriate clinical options for carriers of mutations in BRCA1 or BRCA2. Third, concerns about the societal and ethical implications of genetic testing for predisposition to cancer have led to much controversy (53). These concerns have included possible loss of health insurance benefits, genetic discrimination and the need for confidentiality of medical records that are increasingly computerized, as well as the appropriate involvement of profit-driven, unregulated commercial testing. Mutational analysis of large genes for the presence of heterozygous mutations is technically difficult and expensive, and biotechnology companies have taken the lead in optimizing approaches for mutation detection, which include automated nucleotide sequencing and eventually will include DNA chip-based technology. While screening for genetic predisposition to pediatric cancers and rare neurologic disorders has long been available, the discovery of breast cancer genes marks the first time that presymptomatic testing may affect a potentially large number of individuals at risk. As the genetic etiology of other common human diseases is defined, it is likely that issues of genetic testing and confidentiality, "the right to know" and "the right not to know" will play an increasingly important role in human genetics and in medicine. Our challenge will be to understand the significance of these genetic discoveries and their appropriate place in the practice of medicine. Annu. Rev. Medicine 1998. 49:425-436 Copyright 1998 by Annual Reviews Inc. The references cited in the above excerpt are: References 51-53 Return to Contents ------------------------------------- 2. Genetic Counselling The importance of genetic counselling, to help people to understand what all this means for them, is emphasized in material about genetic testing that was sent to the Breast-Cancer mailing list on Thu, 5 Feb, 1998. Click here for the original message. This material was originally obtained via: _________________________________________________________________ Genetic Testing - Counseling Needed before Tests Dayton Daily News Tue, Feb 03 1998 * Family history is checked before genetic testing is considered. [snip] The problem with genetic information is that a lot of the things everybody knows are wrong. No one should undergo genetic testing without counseling, for one thing, White said. But unfortunately, said genetic counselor Anne Veght at The Children's Medical Center, "There's probably fewer than 2,000 of us in the country that are board certified." A genetic counselor can tell if someone has a hereditary risk for a genetic cancer. Hereditary patterns surface in grandmothers, mothers, sisters and children, and not necessarily aunts and cousins. "Before we even consider testing, we do a family history," Veght said. [snip] Without a true hereditary pattern, detection of a mutated BRCA1 gene is less meaningful, White and Vecht said. In fact, because BRCA1 genes can mutate in hundreds of ways, that detection is most meaningful if the mutation is the same as the stricken family member's. [snip] "There's so much we don't know," White said. Copyright 1998, Dayton Daily News. _________________________________________________________________ What's not emphasized in these excerpts is that the hereditary pattern on both the mother's and the father's sides of the family need to be studied. It's particularly important to know whether or not any of the stricken family member's first-degree relatives (e.g. mother, sister, daughter) have also had a diagnosis of breast cancer, but it's a myth that mutated BRCA genes can only be transmitted through the mother's side of the family. An important issue about genetics research is it's possible implications for other members of one's family, or even for one's community. For example, if the results of a test for a mutated BRCA gene are not regarded as confidential information, then those individuals known to carry a mutated gene might become (at the worst) uninsurable, unemployable, and even unmarriageable. Another important example is genetics research that might exploit particular populations. Return to Contents ------------------------------------- 3. Genetics Research That Might Exploit Particular Populations For a message about genetics research sent to the Breast-Cancer mailing list on June 15, 1998, see:
  • Genetic research (long) It contains excerpts from an article in The Scientist (Volume 12, #12, June 8, 1998) by Stephen P. Hoffert. For the original article, entitled 'Concerns Mount over Privacy As Genetic Research Advances', see:
  • Article by Stephen P. Hoffert Of particular interest are the excerpts about the company deCODE Genetics Inc. in Iceland: In 1997, Kari Stefansson, a native of Iceland and a geneticist formerly at Harvard University, founded deCODE Genetics Inc., in Reykjavik ( In hopes of making Iceland's greatest natural resource--its genes--available to scientists throughout the world, the company, which now employs more than 200, is in the process of gathering clinical records, DNA, and family histories for most of the nation's 270,000 people. The people of Iceland are a unique find for researchers in genetics. They descend from Vikings who settled the desolate island more than 1,100 years ago. This isolation has made present-day Icelanders a genetically homogenous group. [snip] But deCODE's most impressive achievement to date is its research agreement with Hoffmann-LaRoche Ltd., Basel, Switzerland, in February. The partnership could bring deCODE more than $200 million in the next five years. As part of the agreement, Hoffmann-LaRoche will hold exclusive rights to any drugs or diagnostic devices developed from the research. However, they will have to provide these products to Icelanders free of charge. [snip] Stefansson says public support of deCODE has flourished in Iceland and no concerns over exploitation have been voiced. The company has had 99 percent participation rates in studies and was voted in May the most popular company in Iceland by newspaper readers, he notes. "We have had this enormous support here because we are an Icelandic company bringing new technology and jobs to the nation," Stefansson continues. "We have laid a very firm foundation for the growth of the biotechnology industry in Iceland; and in many ways, people look at our company as the answer to exploitation of marginal populations in scientific research." [remainder snipped] (The Scientist, Vol:12, #12, p. 1,7, June 8, 1998) (Copyright: The Scientist, Inc.) _________________________________________________________________ It should be noted that the emphasis in this Icelandic example is on genes as a natural resource of a (relatively well-defined) community, with a sharing by the community of benefits obtained from the exploitation of this resource. However, what about guidelines that address, in a way that is applicable to a wider range of circumstances, the issue of who should have access to and control of human genetic material and information? Return to Contents ------------------------------------- 4. Ethics Guidelines For Genetics Research Below is a copy of material sent to the Breast-Cancer mailing list on Sat, 24 Jan, 1998. Click here for the original message. Subject: Ethics guidelines for genetics research (draft) From: Medical News & Perspectives - January 21, 1998 Ethics Group Drafts Guidelines for Control of Genetic Material and Information AS SCIENTISTS race to construct a complete map of the human genome; and as the number of genetic tests for inherited diseases grows; ethicists are struggling to create guidelines that address who should have access to and control of human genetic material and information. Soon to weigh in on the subject is an international group of ethicists convened by the Human Genome Organization (HUGO) [snip] In a previous statement issued in 1995, HUGO's Ethical, Legal, and Social Issues Committee made recommendations on "the principled conduct of genetics research" to provide direction for Human Genome Project scientists in the initial collection of DNA samples (available at The new statement addresses questions related to access to and control of such samples after they've been collected, said committee chair Bartha Maria Knoppers, LLD, who unveiled a draft of the new guidelines at an international conference on genetic information held last month at the University of Central Lancashire, Preston, England. "None of these recommendations are cast in stone; it's just a draft," she cautioned. In formulating the new guidelines, the group reviewed more than 80 policy statements from official bodies (such as governmental commissions and national committees) from around the world that addressed control of human tissues and the genetic information derived from such samples, said Knoppers, of the University of Montreal in Quebec. Breaking New Ground One of the group's recommendations that for the most part breaks new ground is based on the notion that genetic information, by its very nature, is both personal and familial; and that the latter cannot be completely ignored. In its review of policy statements on access to genetic information, the committee found that most completely failed to recognize familial and social needs, Knoppers said. "Shared biological risks create special interests and moral obligations, and these may outweigh individual wishes [regarding access to genetic information]," she said. Thus, in the draft guidelines, the HUGO committee noted that special consideration should be made for access by immediate relatives when there's a high risk of having or transmitting a serious disorder and prevention or treatment is available. "Our policy is that if a [genetic condition] is serious and will be transmitted and is preventable or treatable, we would encourage you to tell your relatives," said Knoppers. But even if the patient chooses not to inform immediate relatives about genetic information, relatives in such cases should have access to stored DNA when such access would help them learn their own status. For example, in genetic conditions for which a particular causal gene has not been found, access to DNA of close relatives would make it possible for researchers to carry out studies and construct a family pedigree that could help the individual determine if he or she was at risk, said Knoppers. Other guidelines in the draft address the use of patient tissue samples obtained during routine medical care and whether samples collected for 1 type of research may later be used for other research. The committee recommends, subject to appropriate ethical review, that: * Routine samples obtained during medical care and stored may be used for research if the patient received general notification of such potential use and did not object to it, and if the sample to be used by the researcher has been "anonymized." (Anonymized samples are stripped of information that could link them to the patient.) Routine samples obtained during medical care and stored before a policy of notification was in place may be used for research if the sample has been coded or anonymized. * Research samples may be used for other research if there is a general notification of such potential use, the patient has not objected, and if the samples have been coded or anonymized. The "general notification" may range in specificity, with some countries stipulating that future research may be done on particular diseases and others merely indicating that the sample may be used in future genetic research. * Security mechanisms should be in place to ensure respect for choices made by patients and to ensure confidentiality. * Unless authorized by law, research results should never be disclosed to institutional third parties, such as insurers and employers, even with individual consent. The latter recommendation was made because most research results are too preliminary, and too probabilistic, to be meaningful in the calculation of individual risk [for actuarial use], said Knoppers. [snip] By Joan Stephenson, PhD (JAMA. 1998;279:184) _________________________________________________________________ Above, a reference is made to recommendations issued in 1995, by HUGO's Ethical, Legal, and Social Issues Committee about "the principled conduct of genetics research" to provide direction for Human Genome Project scientists in the initial collection of DNA samples. A link to this statement is provided in the next section. Return to Contents ------------------------------------- 5. Principled Conduct Of Genetics Research For a statement from the HUGO Ethical, Legal and Social Issues Committee, go to:
  • An excerpt: The HUGO-ELSI Committee recommends: * That scientific competence is an essential prerequisite for ethical research. It includes appropriate training, planning, pilot and field testing, and quality control through continual review. * That communication not only be scientifically accurate, but understandable to the populations, families, and individuals concerned and sensitive to their social and cultural context. Communication is a reciprocal process; researchers must strive to understand as well as to be understood. * That consultation should precede recruitment of possible participants and should continue throughout the research. Cultural norms vary, as do perceptions of health, disease, and disability; of family; and of the place and importance of the individual. * That informed decisions to consent to participate can be individual, familial, or at the level of communities and populations. An understanding of the nature of the research, the risks and benefits, and any alternatives is crucial. Such consent should be free from coercion by scientific, medical, or other authorities. Under certain conditions and with proper authority, anonymous testing for epidemiological purposes and surveillance could be an exception to consent requirements. * That any choices made by participants with regard to storage or other uses of materials or information taken or derived therefrom be respected. Choices to be informed or not with regard to results or incidental findings should also be respected. Such choices bind other researchers and laboratories. In this way, personal, cultural, and community values can be respected. * That recognition of privacy and protection against unauthorized access be ensured by the confidentiality of genetic information. Coding of such information, procedures for controlled access, and policies for the transfer and conservation of samples and information should be developed and put into place before sampling. Special consideration should be given to the actual or potential interests of family members. * That collaboration between individuals, populations, and researchers and between programs in the free flow, access, and exchange of information is essential not only to scientific progress but also for the present or future benefit of all participants. Co-operation and co-ordination between industrialized and developing countries should be facilitated. An integrated approach and standardization of conditions and consents is essential to ensure viable collaboration and comparison of results. * That any actual or potential conflict of interest be revealed at the time information is communicated and before agreement is reached. Such actual or potential conflicts should also be reviewed by an ethical review committee before any research begins. Honesty and impartiality are cornerstones of ethical research. * That undue inducement through compensation for individual participants, families, and populations should be prohibited. This prohibition, however, does not include agreements with individuals, families, groups, communities or populations that foresee technology transfer, local training, joint ventures, provision of health care or of information infrastructures, reimbursement of costs, or the possible use of a percentage of any royalties for humanitarian purposes. [remainder snipped] Return to Contents ------------------------------------- 6. Some Concluding Comments The last recommendation in this excerpt is: * That undue inducement through compensation for individual participants, families, and populations should be prohibited. This prohibition, however, does not include agreements with individuals, families, groups, communities or populations that foresee technology transfer, local training, joint ventures, provision of health care or of information infrastructures, reimbursement of costs, or the possible use of a percentage of any royalties for humanitarian purposes. Iceland has provided an example of a way in which communities or populations can exploit, for the benefit of the community or population as a whole, the natural resource of their genes. Quite detailed information about the proposed Health Sector Database in Iceland is available via a website set up by deCODE Genetics Inc., at:
  • The proposed steps to be taken protect the confidentiality of data about individuals are particularly interesting. But, what about the benefits (and risks) for those particular individuals or families who turn out to be 'database stars', that is, who provide unusually informative and valuable data (e.g. because they have unusual genoptypes, or unusual combinations of risk factors for particular health problems)? Should such 'stars' receive special benefits, and/or special protection from risks? ----------------------------------------------------------- Copyright 1998 by Jim Till The material above was last modified on November 6, 1998 Return to Contents ----------------------------------------------------------- Note added on January 11, 1999: From: "Law on database passed The Bill on Health Sector Database was passed by the Icelandic Parliament on December 17th by a majorty of 37 votes against 20, with 6 parliamentarians absent. Many parliamentarians said that the passing of the bill was a historic moment for Icelandic scientists". Copyright deCODE genetics Inc., 1998 For information about the Bill, see The format of this page was last modified on February 9, 1999 ------------------------------------------------------------- Return to Contents Send me an email message, to: Go to my main Links Page Disclaimer Go to Part 2

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