Author: Human Genome Program
Author Date: 11/1/2000
Revision Date: 2002-01-01T00:00:00

The first phase of the ambitious international effort to determine
the entire sequence of the human chromosome set is virtually
complete. Human Genome Project scientists plan to finish the human
sequence by 2003, along with a database of the most common sequence
variations that distinguish one person from another. This knowledge
base, freely available to any interested person over the Internet,
will revolutionize biology and medicine.

But how? What will be different 20 years from now because the human
genome was sequenced?

Only time will prove the accuracy of the following predictions, but
here is a list of some effects we might expect in 2020.

More Effective Pharmaceuticals
A virtually complete list of human gene products will give us a vast
repertoire of potential new drugs. From 500 or so drugs in 2000, at
least six times this number will have been identified, tested, and
commercialized in 2020. Most will be manufactured by recombinant DNA
technology so they will be reagent-grade pure, just as human insulin
and growth hormone are today.

Your medical record will include your complete genome as well as a
catalogue of single base-pair variations that can be used to
accurately predict your responses to certain drugs and environmental
substances. This will permit you to be treated as a biochemical and
genetic individual, thus making medical interventions more specific,
precise, and successful. In addition, the increased power of
medicine to predict susceptibility to specific diseases will allow
you to alter your lifestyle to reduce the likelihood of developing
such diseases or to be treated with preventive or disease-delaying
medicine.

Treatment failures occasionally happen today with drugs for
hepatitis C infections, antihypertensives, and certain
antidepressants (selective serotonin reuptake inhibitors like
Prozac). In the next 15 to 20 years, more effective drugs will be
developed, and doctors will test individual genetic profiles against
panels of drugs available for a specific condition and choose the
treatment with the greatest potential benefit for each patient.

Today, some 100,000 people die each year from adverse reactions to
drugs, and millions of others must bear uncomfortable or even
dangerous side effects. We see such current examples as heart-valve
abnormalities from diet drugs, muscle damage from some hormone-
regulating drugs, and nervous system effects with certain types of
antidepressant medications. As genes and other DNA sequences that
influence drug response are identified, we can expect the number of
toxic responses to drop dramatically and most side effects to be
eliminated.

Societal Implications
Another consequence of greater knowledge about individual variation
is more disturbing, and we may face some unpleasant consequences
unless society makes some hard choices. These considerations include
the likelihood that your medical information will be available to
others not in the medical professionyour insurer or employer,
perhaps. Employers may have a strong motive to learn about your
risks of developing certain conditions so they can avoid hiring you
or restrict the kinds of work you may do.

Genetic Testing, Therapy
Although now plagued by technical difficulties, gene therapy for
single-gene diseases will be routine and successful in 20 years.
Certain aberrant disease-associated genes will be replaced with
normally functioning versions, and several hundred diseases will be
curable. Neonatal genetic testing for these treatable conditions
will be routine.

Some of the mysteries of early embryonic development will be solved.
We should know the timing of expression of most, perhaps all, of the
human gene set. We may have learned how to direct differentiation so
that a desired cell type or even relatively simple organs and parts
of more complex organs can be grown for transplantation. In 2020, we
will have made substantial progress towards true cloning of certain
organs, but many difficult technical steps will remain before
successful cloning of a heart or liver.

As genetic testing using DNA sequence becomes less expensive and
more accurate, it will be used commonly and reliably in cases of
mistaken identity, false or misattributed paternity, and the
identification of missing persons. Misguided attempts to ascribe
behavioral tendencies to a persons genes will cause many problems,
especially for the courts that must resolve disputes when an
individuals behavior and actions conflict with laws. Should society
(via the courts) interpret behavior as a consequence of free will or
as influenced by genetic constitution? At what point does society
mitigate responsibility or punishment?

Understanding Life
On the brighter side, an inevitable consequence of the genome
project will be a much greater understanding of fundamental biology.
Already, more than three dozen organisms (mostly one-celled
microbes) have been completely sequenced. The fruit fly, the latest
organism to be sequenced, is being used to model the essential
features of human disorders such as Parkinsons, making possible a
powerful genetic approach to garnering knowledge about diseases as
well as to developing more effective treatments. In 2020, perhaps
1000 complete genomes will be in hand. Besides furnishing insights
into evolution, this vast repertoire of new genes and their products
can be explored for their potential in solving challenging problems
such as environmental cleanup.

We will fitfully and slowly gain some insights into biological
complexity. In 2020, we will know how to build a functioning cell
capable of free-living existence. We will understand certain
pathways used by this simplest cell, but there still will be
unanswered questions about it. We will be virtually no closer than
we are today to the mysteries of such true emergent properties as
intelligence in complex multicellular organisms.

Challenges
We speculate that the Human Genome Project will have vast and
largely positive impacts on people living in 2020. Of the various
predictions noted above, the last two are the most profound because
the most powerful and momentous impacts come from fundamental
knowledge, usually in unforeseen ways. As this astonishing treasure
trove is introduced into society, we need to be alert to challenges
and misuses of the knowledge about ourselves. Society as a whole,
not just genome scientists, must address these considerations. It
has to be all of us.