Learning about the Human Genome. Part 1: Challenge
to Science Educators. ERIC Digest.
by Haury, David L.
We have reached a new milestone in our quest to understand ourselves.
On February 15, 2001, the International Human Genome Sequencing Consortium
published a landmark report: "Initial sequencing and analysis of the human
genome" ("Nature," Vol. 409). As I thumb through the maps of human chromosomes
presented in the report, I am both amazed and humbled by the accomplishment.
The international collaboration of specialists in computing, mathematics,
molecular genetics, technology, and other sciences to accomplish this task
and usher us into the modern era of biotechnology has been extraordinary.
At the same time, the potential consequences of using the resulting information
and skills are humbling. "We've now got to the point in human history where
for the first time we are going to hold in our hands the set of instructions
to make a human being." John Sulston, UK Sanger Centre (For more reactions,
Decoding the human genome brings new meaning to "the information age."
In a few short years we have progressed beyond creating digital books and
encircling the globe with the World Wide Web to documenting the full text
of the genetic code that describes how to assemble and operate a human
being. We may not yet know how to interpret all the text, let alone follow
the recipe, but it is being recorded in full detail on the Web for anyone
in the world to see. From the perspective of digital information, this
is the book of human life, and decoding it is a phenomenal accomplishment
of scientific thinking and our creative use of technology. The only thing
more astounding is that this genetic recipe has been stored, read, and
translated by every nucleated cell in every human that has ever lived.
But what are we to make of it? Presented here are some initial ideas
about what high school students and informed parents can learn about the
human genome. First, a few words about the source of recent findings. On
October 1, 1990, a project-the Human Genome Project (HGP)-aimed at mapping
and sequencing the entire genetic code of humans began. Funding of the
project in the United States has been provided by the National Institutes
of Health and the U.S. Department of Energy, with the goal of sequencing
the entire human genome within 15 years. Due to advances in technology
and vigorous competition, the project is currently well ahead of schedule
and costing less than anticipated. A guide to the project and its accomplishments
to date has been edited by Dennis and Gallagher (2001), and the rich context
of events and issues leading up the project have been provided by Bishop
and Waldholz (1999). A response to the ramifications-from interpreting
the past to considering the future-of the HGP has been contributed by Ridley
(1999). These and other authors characterize the accomplishments of the
HGP as more than a momentous achievement; rather, the sequencing of the
human genome is viewed as the beginning of a revolution in knowledge.
THE EMERGING LEGACY OF THE HGP
As spectacular as the accomplishments of the HGP have been, its ongoing
importance will be revealed through what it enables us to do over time.
The information gathered from the Project will fuel biological and medical
research for years to come, transforming both science and how we use genetic
TRANSFORMING HOW SCIENCE IS DONE
The HGP has introduced fundamental changes in the way biological research
is done (Butler, 2001). In addition to the advent of large-scale, international,
multidisciplinary collaboration in pursuing an ambitious goal, we've seen
the further transformation of biology into a computational science with
huge data sets to mine. The online publishing of results through the World
Wide Web is also notable and will likely further the trend toward nearly
real time dissemination of research findings. Science educators will need
to revise their descriptions of scientific enterprise to reflect these
new ways of gathering, interpreting, and disseminating information.
DEVELOPING NEW TOOLS TO COMBAT DISEASE
Information and techniques associated with the HGP are leading to new
approaches to examining and understanding the causes and mechanisms of
diseases. A review issue of Pathology [Vol.195 (1)] was devoted to "Genomic
Pathology-A New Frontier" Also, a publication by the Department of Energy,
"Genomics and Its Impact on Medicine and Society: A 2001 Primer" (Available
online at http://www.ornl.gov/hgmis/publicat/primer2001/index.html), outlines
potential applications of genome research to medicine and disease control,
including the following:
* Improving diagnoses of diseases
* Detecting genetic predispositions to disease
* Creating drugs based on molecular information
* Using gene therapy and control systems as drugs
* Designing "custom drugs" based on individual genetic profiles
EXAMINING THE HUMAN CONDITION
The ability to perform detailed analyses of DNA sequences enables both
genetically describing individuals and discerning the genetic heritage
of individuals and groups over time. Some of the applications of these
procedures are outlined by "Genomics and Its Impact on Medicine and Society,"
including he following:
* Risk Assessment
Evaluating the health risks faced by individuals who may be exposed
to radiation (including low levels in industrial areas) and to cancer-causing
chemicals and toxins.
* Bioarchaeology, Anthropology, Evolution, and Human Migration
Studying evolution through germline mutations in lineages
Studying migrations of different population groups based on maternal
Studying mutations on the Y chromosome to trace lineage and migration
Comparing breakpoints in the evolution of mutations with ages of populations
and historical events
* DNA Identification
Identifying potential suspects whose DNA may match evidence left at
Exonerating persons wrongly accused of crimes
Identifying crime, catastrophe, and other victims
Establishing paternity and other family relationships
Matching organ donors with recipients in transplant programs
THE HGP CHALLENGE FOR SCIENCE EDUCATORS
Despite the rapid progress and success of the HGP, little attention
has been given to the project and its findings within the standard school
curriculum. Some have focused on the ethical dimensions (Morris, 1994;
Rifkin, 1998), and others have focused on the challenge of teaching about
DNA sequencing (Morvillo, 1997). As McInerney (1996) has pointed out, there
has been no educational revolution in response to the biological revolution
regarding our understanding of human genetics and the human genome. Given
the inevitable role that genetics will increasingly have as a central feature
of health care and public policy, it is crucially important that non-specialists
come to understand genetics and its many applications. McInerney identified
four challenges in translating the complexities of modern genetics to non-specialists:
* Teaching for Conceptual Understanding.
Conventional instruction in genetics typically is preoccupied with isolated
facts, extensive vocabularies, simplistic single-gene traits, and typologies
rather than variation.
* The Nature of Science.
As Mcinerney said, "Poor public understanding of how the scientific
community generates and validates new knowledge likely is a more critical
deficiency than is the public's lack of familiarity with any given piece
of that knowledge." The best way to learn about the nature of science is
to actually do science in the classroom, and there are many genome-related
investigations appropriate for the high school classroom.
* The Personal and Social Impact of Science and Technology.
The pace at which advances in our understanding of genetics is raising
once-hypothetical issues calls for greater attention to ethics and public
policy matters in the science classroom. We must move beyond simplistic
debates to engage students in critical analysis of arguments, reasoning,
* The Principles of Technology.
Technology-dependent endeavors such as the HGP and genetic medicine
highlight the need to promote greater attention to the principles of technology
in science classes.
The resources identified in Part 2 of this Digest are provided to assist
educators in meeting these challenges. An indication of the potential linkages
between the HGP and the National Science Education Standards is included,
along with Web resources and instructional materials that can serve as
starting places in developing school instruction and public outreach programs.
Bishop, J. E., & Waldholz, M. (1999). "Genome: The story of the
most astonishing scientific adventure of our time-The attempt to map all
the genes in the human body" (Updated Edition). San Jose, CA: toExcel.
Butler, D. (2001). Postgenomics: Data, data, everywhere... "Nature,"
414, 840 - 841
Dennis, C., & Gallagher, R. (2001). "The human genome." New York:
McInerney, J. D. (1996). The Human Genome Project and biology education.
"The Australian Science Teachers Journal," 42 (1), 11-17.
Morris, L. J. (1994). Bioethical dilemmas: Decision-making and the Human
Genome Project. "The Science Teacher," 61 (2), 38-41.
Morvillo, N. (1997). The dynamics of DNA sequencing. "The Science Teacher,"
64 (7), 46-50.
National Research Council. (1996). "National Science Education Standards."
Washington, DC: National Academy Press. (Available online at: http://books.nap.edu/html/nses/html/index.html.
Ridley M. (1999). "Genome: The autobiography of a species in 23 chapters."
New York: HarperCollins.
Rifkin, J. (1998). The sociology of the gene: Genetics and education
on the eve of the biotech century. Phi Delta Kappan, 79 (9), 648-54.