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Presidential Address to the American Society of Human Genetics (ASHG)
Dr. Robert L. Nussbaum, M.D. ASHG President
Annual Meeting October 26-30, 2004 Toronto, Canada
What is Special about the "Human" in Human Genetics?
I would like to begin where all of my predecessors as President have begun, by
thanking the membership for placing their trust and confidence in me to serve
as your President this past year. Serving in this role has given me a superb bird's
eye view of the organization and the dedicated and knowledgeable people who work
in the administrative office. I have also had an opportunity to share the thoughts
and wisdom of a remarkable group of people on the Board of Directors and on the
committees who give their time and energy as volunteers to our Society. To all
of you, I want to express my gratitude and admiration.
When I began to compose my presidential address, I went to the texts of previous
presidential addresses and discovered that it was déjà vu all over
again: most of my predecessors had done the same thing and had read through the
comments of previous Presidents to get some idea of what was expected of them.
Most commented that this review of the "sacred texts" was not as helpful
as they hoped. Why? They found, as did I, that there was no "formula."
HJ Muller, Alfred Knudson, Janet Rowley, Arthur Beaudet, and David Valle, gave
scholarly dissertations on scientific areas of personal interest to them and,
they hoped, more broadly to the membership. John Hamerton, Margery Shaw, and Charlie
Epstein spoke eloquently about important social issues of the day, such as the
controversy over the 47, XYY karyotype and antisocial behavior, the concepts of
wrongful life and wrongful birth, and, most famously, Charlie Epstein's forceful
reminder that "Not everyone loves Human Genetics." Still others gave
personal remembrances, such as Judy Hall or Hunt Willard, who spoke of their personal
experiences and relationships with mentors and colleagues over the years. I did
receive some advice from my adult children to "Keep it short and try to be
entertaining." I at least accomplished one of those goals, i.e. to keep it
short. I donated a good portion of the time usually allotted to the presidential
address to Brendan Lee and the Program committee so they could increase the number
of presentations at the plenary session.
[Pause] You are supposed to applaud in appreciation and gratitude for my self-sacrifice . . .
I had to face the dilemma of being just one in a long line of presidents, many
of whom were very distinguished geneticists, true giants in the field. What
could I say that had not already been said? In this dilemma, I was not alone.
There is a wonderful erudite set of essays on 18th century literature by a college
professor of mine, Walter Jackson Bate, called "The Burden of the Past
and the English Poet" in which he discusses the problem faced by poets
who had to ply their craft in the footsteps of the likes of Shakespeare and
Dryden. In the introduction to his essay, he quotes an Egyptian scribe who wrote
4000 years ago:
"Would I had phrases that are not known, utterances that are strange, in new
language that has not been used, free from repetition, not an utterance which
was spoken by men of old and already grown stale."
Don't we all. So, in trying to find something new to say, free from repetition,
I decided to go back to beginning and review what is written in the charter
of our Society, when it was launched, and there wasn't a long past history of
presidential addresses.
The chartered mission of the Society is:
- to encourage and integrate research, scholarship and education in all areas
of human genetics,
- to bring into close contact investigators in the many general fields of research
that involve human genetics, and
- to encourage discourse on applications of human genetics to society at large.
The founders of our Society had very ambitious goals, and continuing to strive
towards these goals remains critical for the continued vitality and relevance
of our Society. They are, however, goals that cannot be achieved without your
help and involvement. I will be giving a report on how well we, the members
of the Society, are fulfilling the charge and responsibility laid out by its
founders.
Broadly speaking, each component of our mission can be mapped onto three major
activities of our Society:
- to encourage and integrate research, scholarship and education in all areas
of human genetics - that's our journal,
- to bring into close contact investigators in the many general fields of research
that involve human genetics - that's our meeting, and,
- to encourage discourse on applications of human genetics to society at large
- that's our Policy and Education Programs, as embodied in the work of our permanent
Executive Vice President, our Mentor Network and our Social Issues and Information
and Education Committees.
Each of these activities is healthy but there is much still to be done as we
face a changing terrain with major challenges.
First the journal.
As I am sure you have heard, the entire field of scientific publishing was awoken
from its dogmatic slumber by the launch of the Open Access movement. At a meeting
of its proponents held in the Spring of 2003, two basic principles were enunciated:
- The author(s) and copyright holder(s) grant(s) to all users a free, irrevocable,
worldwide, perpetual right of access to, and a license to copy, use, distribute,
transmit and display the work publicly.
- A complete version of the work and all supplemental materials is deposited
immediately upon initial publication in at least one appropriate online repository
to enable open access and unrestricted distribution.
The real push, however, came this summer when In mid-July, the House Appropriations
Committee approved legislation funding the Department of Health and Human Services
for fiscal year 2005. Accompanying the bill was a report, with language by Congressman
Istook, ordering the National Institutes of Health (NIH) to develop a plan placing
an electronic copy of any paper resulting from NIH-funded research on PubMed
Central, the free digital library maintained by the National Library of Medicine.
As proposed, copies would be available six months after their journal publication
date or - if the publication costs were partially paid for by NIH - the initial
manuscript would be available immediately on PubMed. Soon thereafter, an open
letter from 25 Nobel laureates was sent to Congress in support of the Open Access
Initiative.
The underlying motive of making peer-reviewed scientific literature available
electronically, on line, without subscription cost is a laudable goal. The devil
is of course in the details.
One issue is financial
The Open Access (OA) Initiative says optimistically::
"We can be confident that OA journals are economically sustainable because
the true costs of peer review, manuscript preparation, and OA dissemination
are considerably lower than the prices we currently pay for subscription-based
journals. Moreover, as OA spreads, libraries will realize large savings from
the conversion, cancellation, or demise of subscription-based journals."
Unfortunately, this statement was more a leap of faith than a hard-eyed look
at the publishing balance sheet. Our journal already operates successfully with
open electronic access six months after publication. If even this small delay
were eliminated, what would happen to paid subscriptions? We should not lose
sight of the fact that the journal is hardly a profit making operation that
is lining the pockets of fat cat owners and shareholders. What profit we make
from the journal helps support the activities of the Society, including the
office, the work of our committees, the outreach efforts, and all the rest.
The second issue of where the online electronic versions are to reside is also
an important one.
The Open Access model makes a strong scientific argument that
" ... barrier-free access to the literature also means barrier-free access
for the software that facilitates full-text searching, indexing, mining, summarizing,
querying, linking, alerting, and other forms of processing and analysis."
Just as we have open access to genomic data, expression array data, polymorphism
data, just so we need open access to the far more complicated but rich data
in the published literature, to allow data mining to support the computer-assisted
analysis that can bring novel relationships and correlations to light.
We are concerned that Pubmed Central may not be up to the task of hosting the
entire biomedical literature in electronic form as the sole repository. The
National Library of Medicine claims that it is. The American Journal of Human
Genetics and its publisher, the University of Chicago Press, has actually had
some experience trying to get PubMed Central to post full-text articles from
our journal in a timely manner - our experience did not build confidence. However,
that was in the past and PubMed Central's functioning could always improve.
In a notice published last month, the NIH announced that it was seeking public
comments regarding its plans to facilitate Online Access for publications of
work supported by the NIH.
The intent will be for accepted manuscripts to go into PubMed Central for Open
Access as e-publications immediately on acceptance. This version would be replaced
by the final copy-edited version from the publisher no more than six months after
acceptance with a link to the publisher's website. The NIH "trusts"
that the up to six-month delay will not result in such disruption of current journal
revenue streams and business models that unreasonable or disproportionate charges
will be made to grantees.
Open Access is an issue to which we all, as authors, peer reviewers, and members
of a society with a valued journal, must pay attention. The leadership of ASHG
is working to reach a reasonable accommodation that will serve the public interest
without destroying a whole raft of scholarly journals, including our own.
Now, the meeting.
Here, I would like to turn to the main theme of my address
and provide some personal answers to the question I posed in the title of my
talk:
What Is Special about the "Human" in Human Genetics?
Let me remind you of component #2 of the Society's mission
- to bring into close contact investigators in the many general fields of
research that involve human genetics.
In his 1977 presidential address, Arno Motulsky wrote:
"The boundaries of human genetics are indistinct and blurred. It is sometimes
said that future progress in the sciences, particularly in those areas of importance
for human health and welfare, will increasingly come from interdisciplinary
fields by applying concepts and techniques from one field to another area. We
must therefore continue to be on the lookout for methods from other fields
"
I have been coming to the meetings of the ASHG for many years because it is
the one place where not only are novel and exciting findings in human genetics
presented, but the attendees care about what these results mean to patients,
their families, society at large, and our understanding of who we are as a species.
The scope of the meeting is expansive, not narrow. However, new areas of research
important to human genetics continue to develop and flourish, often through
the efforts of many of our members. Yet often largely outside the boundaries
of our meeting. Are we in a position to share in this information and benefit
from it? As a society, we all have much to learn in areas of inquiry such as
genomics, gene replacement technology, stem cell research, social science and
behavioral research, communication research, functional physiological imaging,
real-time microscopy, and translational research in multifactorial risk assessment
and intervention. This is not to say that these fields are entirely neglected
at the meeting or that the meeting is overly occupied with research that is
irrelevant to the field of human genetics. No, my greatest fear is that of parochialism,
in which we continue a system that is simply a self-perpetuating status quo.
If we get set in our ways, become known for being interested in certain areas
and not others with relevance to human genetics, we will attract members with
research interests that simply reinforce such conceptions. The result? A self-fulfilling
prophecy that narrows our membership base and scientific scope.
The board of directors discussed this issue among themselves and with the program
committee and decided on an experiment that we call "Strategic Outreach".
We have convened a group of ASHG members with strong ties to other organizations
and fields, to be headed by Dr. Diana Bianchi from your board of directors.
The Strategic Outreach Committee is charged with organizing a special symposium
at the annual meeting designed to highlight a topic that is pertinent and relevant
but unusual compared to what is currently presented and discussed at the meeting.
The Strategic Outreach Symposium will be a plenary session and should highlight
unusual areas that are off the beaten path. What makes this different from the
very valuable interdisciplinary symposia that our members suggest to the program
committee is that we want the symposium to be primarily, if not exclusively,
composed of people from outside our Society, who may never have attended an
ASHG meeting, and yet are doing research that may prove very important to future
progress in our field. Our success in this endeavor will be measured in a number
of ways: first, in how successful we are in putting together symposia here that
the members find thought provoking and illuminating. Second, do we encourage
attendance at our annual meeting by individuals from these other societies once
they encounter the power and beauty of the field of human genetics, and, third,
are we asked to participate in other annual meetings to spread the word about
human genetics.
Strategic Outreach is doomed to fail, however, without the active involvement
of our ASHG membership. Be active, get in touch with the Strategic Outreach
group so we can take advantage of your knowledge and contacts within other societies
to help us form partnerships. I set this as a challenge to you, the members,
to work with your leadership to make the meeting a place where we continue to
emphasize that the human in human genetics is special because it requires us
to be broad and interdisciplinary if we are going to truly encompass the many
ways that genetics is informed by and is applied to human biology, medicine
and society.
How about the third component of our mission?
- to encourage discourse on applications of human genetics to society at large.
This aspect of our mission was addressed by Lee Rosenberg in his eloquent presidential
address in 1980. He chose to talk about the American society of Human Genetics
itself, how it was organized, how it was functioning, who were its members.
What I found particularly interesting was that his talk occurred at a pivotal
moment in our Society's history, when we were outgrowing the stage of being
a cottage industry run out of the academic office of the President and of the
journal publisher. In a memorably succinct understatement, Lee said:
"Our organization is anything but a household word. ...
[we face a] fundamental problem - namely, that of increasing the likelihood
that our opinion will be sought about those matters in the domain of our knowledge
and experience".
He went on to recommend that the ASHG establish a permanent office in Washington,
D.C. and join forces with other organizations with clout. The society took him
at his word, although we took or own sweet time in doing it!
In 1983, ASHG/GSA established its own independent office in the Washington D.C.
area with its first executive director, Gerry Gurvich, who was then succeeded
by Elaine Strass nine years later,. Nineteen years after Lee's speech, we joined
Federation of American Societies for Experimental Biology (FASEB) to add our voice to the strength of all the other members of the Federation.
Twenty-one years after Lee's talk, Joann Boughman began as executive vice-president
to provide a full-time presence on policy issues in Washington. Thus, after nearly 20 years of cautious development and maturation, the Society
began to carry out some of the recommendations first proposed by Lee Rosenberg.
The final point I would like to make is that the third component of our mission,
to encourage discourse on applications of human genetics to society at large,
requires an informed, knowledgeable public, Thus, I want to emphasize the role
we need to play in education, particularly what we can do to encourage discourse
on applications of human genetics to society at large.
A commitment to education is a duty. The public is clearly supportive of research.
Consistently, polls show that When asked if they supported Federal funding for
research, over 80 percent said they did, even among those who scored highly on a questionnaire
designed to measure levels of reservation about science and technology.
Consistently over the past three decades, when asked to weigh the benefits and
risks of scientific research, between 70 and 80 percent of the American public felt
that benefits outweighed risks.
Yet, in the recent National Science Foundation survey of public attitudes towards science and technology,
half of all adults expressed an interest in science but did not feel well informed
while only 10 percent were considered attentive, i.e. they felt informed and read at
least a monthly magazine relevant to some area of science.
Society is clearly in favor of research, yet most of them know very little about
what we do and how we do it. Informing the public is not, however, a hopeless
task.
I draw your attention to a poll released February of last year of American public's
knowledge of something very basic: "What is DNA?"
New poll shows dramatic rise in Americans' "DNA I.Q."
Threefold increase delights educators, but is it enough?
Richmond, Va., Feb. 27, 2003 - A new Harris poll of a Nationally representative
sample of 1,031 Americans released today showed that the "DNA I.Q."
of American adults is much higher expected. The poll found that 60 percent of U.S. adults
got the right answer when asked "What is DNA?" When given the multiple choice question, "What does DNA stand for?," two thirds
chose deoxyribonucleic acid. The findings show a dramatic rise in genetics awareness since 1996, when a National
Science Foundation survey showed only 21 percent of adults could define DNA.
I would love to think that the increasing importance and visibility of Human
Genetics is responsible for this rise in what the Richmond Times-Dispatch called
the DNA I.Q. Is it perhaps the Human Genome Project and all of the attendant
publicity? However, according to the Pew Research Center for the People and
the Press, as reported in the National Science Foundation Report on Science
and Technology: Public Attitudes and Public Understanding, only 16 percent of the public
claimed to be following that story very closely.
Thus, there may be other places where people are getting their information
How can we get involved in education of children below the undergraduate level,
in grades K-12, where the vast majority of our school-aged children will receive
essentially all the classroom instruction in human genetics they will get for
the rest of their lives? We hold our regular local high school program that
precedes our annual meeting. This all-day workshop is an all-volunteer effort
by a very dedicated group of individuals, people like Paula Gregory, Loraine
Omen-Gaines, Suzanne Haga, for whom education is a passion and a calling. We
also have participated on a regular basis giving workshops and lectures to teachers
at national conferences of the high school biology teachers and the National
Science Teachers Association. However we think we can do more, in particular
we can contribute to improving the genetics education. I would like to highlight
the "Outreach to Teach" or Mentor Program, which the Society established
and is working to expand.
The mentor program, sponsored jointly by The American Society of Human Genetics,
The National Human Genome Research Institute, The Genetic Alliance, and the
Genetics Society of America encompasses roughly 1200 geneticists in the United
States, Canada, and Mexico, and 37 other countries who have expressed a willingness
to participate in local educational efforts such as DNA day for kindergarten-through-the
12th grade level. We have worked to inform superintendents, science coordinators,
and science and biology teachers of the mentor network and educational resources
available for use in the classroom. The ASHG organized a meeting last month
that brought together representatives of major science teachers groups, organizations
that provide online educational material for genetics, experts involved in the
Biological Science Curriculum Study textbooks, and a number of other interested
parties. Loraine Omen-Gaines, of the Information and Education Committee, was
the prime mover and organizer. These discussions, which have now just begun
and are in their infancy, are designed to establish partnerships between the
Society and educators. There are a number of ways we have explored involving
our Society in the education effort, including developing a "clearing house"
on our Web site for already existing age-appropriate, well-vetted educational
material for our mentors to use when they volunteer in classrooms, joining state
and local networks established by the National Science Teachers dedicated to
this effort, to even getting involved in consulting with textbook companies
that put biology textbooks into thousands and thousands of classrooms around
the country.
This effort is an important part of our mission, but I also recognize that we
are a small organization whose members volunteer their time and energy to the
cause. We all have full-time jobs already. We have a well-run meeting and a
presence in the hearing rooms and offices were important public policy is made
because we have wonderful people on our administrative staff who can focus their
energy on the Society's business. The Board of Directors has been very supportive
in setting aside a small fund for developing pilot projects in education as
well as for hiring an additional ASHG staff member to spearhead an education
initiative. If we are to move out beyond the confines of our meeting and our
journal, to encourage discourse on applications of human genetics to society
at large, as our charter puts it, we need financial resources beyond what we
currently can muster. Foundations who might support our efforts will want us
to show that the members are willing to pitch in and support our efforts by
contributing. I am launching a fund-raising campaign, to form the basis of an
effort in the near future to highlight our initiatives in education to potential
donors, either individual or corporate. To start this campaign off, I have a
pledge from the Board of Directors to kick-start our campaign. My hope is that
the membership will join-in when we come knocking.
The members of this society are dedicated to exploring the many ramifications
of human genetics research and informing the public about what we do and why.
Our willingness to embrace interdisciplinary approaches and our commitment to
have an ongoing dialogue with policy makers and the public is "what's special
about the human in human genetics." Thank you for your attention and enjoy the
rest of the meeting. I certainly will!
Last Updated: June 2006
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