D+ FEB 1 41974
/nacr watt c.@

HOC
STANFORD UNIVERSITY
STANFORD, CALIFORNIA 94305

DEPARTMENT OF ANTHROPOLOGY Feb. 12, 1974

Dr. Fred H. Bergmann

Chief, Genetics Section

Research Grants Branch

National Institute of General Medical Sciences
National Institutes of Health

Bethesda; Maryland 20014

Dear Fred:

This is a follow-up to our telephone conversation in which I indicated to
you my feeling that NIGMS could and should take a Leadership position re-
garding the clinical and social impact of the basic research it has been
funding. One of the places where basic research findings are applied in
clinical practice is in_genetic counseling. In August 1972 (N.E.J.M., 287:9)
F. Hecht and L. Holmes listed 10 unanswered questions about genetic counseling
in an editorial entitled, What We Don't Know About Genetic Counseling. Those
10 questions are still unanswered.

Since that time, many more questions have been raised. Professor James
R. Sorensen (Dept. of Sociology, Princeton) has carried out a survey of 496
genetic counselors (a sunmary appeared in Genetic Counseling, a monthly
newsletter, 1:5, October 1973), and has reported a great diversity of belief
and practice among genetic counselors. To cite one example, 51 percent of
counselérs considered galactosemia a "serious" or "very serious" condition,
but 49 percent called it only "moderately serious," to "minor". There was

a similar diversity of opinion regarding the role or roles genetic counselors
should play.

All of the above material cited represents views of counselors (and
according to Sorenson's data, 80 percent are M.D.s and of those, 63 percent
are pediatricians). But there is almost nothing in the literature that
systematically deals with what the counselees are looking for.

You indicated to me that few studies have been proposed for funding
that would lead to the development of good study instruments and valid
results in evaluating the process and impact of genetic counseling. Further,
even where good ones have come along, they have been given such a low priority
they stand no chance of receiving funds. Yet NIGMS goes on funding research
that will lead to more findings which will be communicated to patients in

a process which we neither understand or evaluate. As I suggested to you,
NIGMS has the responsibility to see that some evaluation is carried out.

‘a-D aaAdaWg
Dr. Fred H. Bergmann -2- 2/12/74

It is obvious that over the country counseling procedures and counselee
populations vary greatly. A study which draws only upon counselors and
counselees in a single institution is bound to produce narrow results.
Indeed, given the number of variables involved in any forseeable evalution
and impact study, a large N is mandatory, which means going outside of a
single institution. If that is the case, whether the funding mechanism
is a research grant or a contract, a good study must be carried out by
a consortium of some kind. Otherwise, the researcher who seeks to study
the patients and counselors at an institution other than his own is bound
to run into severe problems of "territoriality".

One model that you might consider for a well-designed research program
on genetic counseling, is that used by NHLI for their SCOR programs. There
are heart disease research programs going at a number of institutions around
the country, on a contract basis, and one of the requirements is that they
help develop and utilize some of the same research instruments and procedures
and contribute part of their data to a common pool. Perhaps the first step
to take would be to invite potential participants to a workshop or conference
to lay out the research questions and explore ways of tackling them. Your
office need not make a committment beforehand to a particular mode of operation
but should explore various possibilities and be prepared to present them to
the working group.

I would be most interested in participating in such a meeting and working
with you and others to lay out the research questions and suggest candidates
for participation. As I have suggested to you personally, and in my own
proposal, a research program is needed that will creatively draw up objec+
tives against which to measure counseling effectiveness---measures that go
beyond the relatively narrow one of reproductive behavior.

I look forward to hearing your response to these suggestions.

Sincerely,

   

Ord R. Barnett, Ph.D.
Proféssor, Anthropology
Assoc. Professor, Pediatrics
CRB3dq

cc. Dr. J. Lederberg