The Human Genome Project:
Implications for Health Care and Society

Featured Article

Collins F, McKusick VA. Implications of the Human Genome Project for Medical Science. JAMA. 2001 February 7; 285(5): 540-544.
This is a time of dramatic change in medicine. Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses. The author explains the implications of the human genome project, providing an overview of genetics in the 20th century, a history of the human genome project, discussion on the current research focus and the medical research agenda, and an overview of genetics in the medical mainstream.

Other Articles

Collins FS, Guttmacher AE. Genetics Moves into the Medical Mainstream. JAMA. 2001 November 14; 286(18): 232-234.
In this editorial the author notes that genetics is invading the mainstream of medical practice and highlights the rapid advances of the Human Genome Project. In particular, the publication of the first draft sequence of the human genome in early 2001, the many efforts to catalog human variation, as well as the consequences of these new discoveries, are discussed.

Collins FS. Preparing Health Professionals for the Genetic Revolution. JAMA. 1997 October 15; 278(15): 1285-1286.
In this editorial the author highlights the importance of ensuring that all health professionals work together to make genetics education a priority and persuade constituencies of its importance. The author notes that many health professionals are not prepared to incorporate genetics into clinical practice.

Collins FS. Shattuck Lecture-Medical and Societal Consequences of the Human Genome Project. New England Journal of Medicine. 1999 July 1; 341(1): 28-37.
The progress made on the Human Genome Project in the past several years is striking. Scientists have now produced a working draft of the human genome, and the complete human DNA sequence is expected to be unraveled in the next few years. As genome technology moves from the laboratory to the health care setting, new methods will make it possible to screen individuals for a wide range of genetic traits and diseases. Such knowledge may foretell future disease and alert patients and providers to undertake better preventative strategies. In the wrong hands, however, the same information could be used for purposes of genetic discrimination. The ready availability of genetic information in the future will provide a wealth of opportunities to scientists, health care providers, and patients, and it will raise a broad range of policy and ethical questions for policymakers.

Guttmacher AE. Human Genetics on the Web. Annual Review of Genomics and Human Genetics. 2001; 2: 213-233.
The author explains how the World Wide Web has changed the way information is accessed. Since the Human Genome Project has a web-based database that is updated daily, anyone with access to a computer and a modem can keep abreast of the project. Additionally, the web provides clinicians and patients, in addition to researchers, with access to health and medical information.

Guttmacher AE, Jenkins J, Uhlmann W R. Genomic Medicine: Who Will Practice It? A Call to Open Arms. American Journal of Medical Genetics. 2001; 106: 216-222.
The use of genetics in health care is becoming more prevalent. As developments continue, the practice of genetics will no longer be limited to genetic specialists. Rather, more and more individuals in the health care arena will need to acquire additional skills and knowledge in this field.

International Human Genome Sequencing Consortium. Initial Sequencing and Analysis of the Human Genome. Nature. 2001 February 15; 409(6822):860-921.
This article reports the results of an international collaboration to produce and make freely available a draft sequence of the human genome. Twenty groups from the United States, the United Kingdom, Japan, France, Germany and China collaborated to produce a draft sequence of the human genome. Initial analysis of the data as well as some descriptive insights are provided.

Jenkins J, Blitzer M, Boehm K, Feetham S, Gettig E, Johnson A, Lapham V, Patenaude A, Reynolds P, and Guttmacher A. For the Core Competency Working Group of the National Coalition for Health Professional Education in Genetics. Recommendations of Core Competencies in Genetics Essential for all Health Professionals. Genetics in Medicine. 2001; 3: 155-159.
The National Coalition for Health Professional Education in Genetics (NCHPEG) was founded by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute in an attempt to bridge the gap in genetic knowledge. Members are comprised of representatives from more than 100 diverse organizations. NCHPEG solicits group members to work together to address several priorities, including the identification of core competencies in genetics essential for all health professionals. The Core Competency Working Group of NCHPEG originally consisted of 27 volunteer members representing varied disciplines who convened in October 1997 after the NCHPEG annual meeting. The action of the Working Group took place during meetings and conference calls.

Secretary's Advisory Committee on Genetic Testing. Enhancing the Oversight of Genetic Tests: Recommendations of the SACGT. Available at www4.od.nih.gov.oba/sacgt/reports/FINAL_SACGTreport713700correctedpage27.htm.
This report is a listing of recommendations by The Secretary's Advisory Committee on Genetic Testing (SACGT) to the following five questions: (1) What criteria should be used to assess the benefits and risks of genetic tests; (2) How can the criteria for assessing the benefits and risks of genetic tests be used to differentiate categories of tests? What are the categories, and what kind of mechanism could be used to assign tests to the different categories? (3) What process should be used to collect, evaluate, and disseminate data on single tests or groups of tests in each category? (4) What are the options for oversight of genetic tests and the advantages and disadvantages of each option? and (5) What is an appropriate level of oversight for each category of genetic test? As background, SACGT received its charter in 1998 to advise the Department of Health and Human Services on the medical, scientific, ethical, legal, and social issues raised by the development and use of genetic tests. Dr. David Satcher, Assistant Secretary for Health and Surgeon General, asked the committee to review-with public input-the adequacy of current oversight of genetic tests and, if needed, provide recommendations. To assist SACGT with this endeavor, Satcher provided the Committee with the questions.

Venter JC, Adams MD, Myers EW, et al. The Sequence of the Human Genome. Science. 2001 February 16; 291(5507): 1304-1351.
This paper reports the steps taken by the Human Genome Project, a group initiated in the United States under the direction of the National Institutes of Health and the U.S. Department of Energy, to build a unique genome-sequencing facility and to determine the sequence of the human genome over a three-year period. The paper is divided into the following broad, analytical sections: sources of DNA and sequencing methods, genome assembly strategy and characterization, gene prediction and annotation, genome structure, genome evolution, a genome-wide examination of sequence variations, an overview of the predicted protein-coding genes in the human genome, and conclusions. A summary of the major results appears at the beginning of each section.

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