CG)

THE UNIVERSITY OF MICHIGAN

MEDICAL SCHOOL
DEPARTMENT OF HUMAN GENETICS oes .o TELEPHONE:

1137 E. CATHERINE STREET * ANN ARBOR, 764-8490
ANN ARBOR, MICHIGAN September 12, 1978

48109

ASHG Committee to Assess Funding for Human and Medical Genetics

 

Dear Committee,

I have completed collecting data for our initial report to .
the Society, and I will summarize the data in this letter. I have in
mind making a preliminary report at the Vancouver ASHG meeting of what
we have learned so far. For the most part, the report I would like to
make will be a description of the data. However, I think the report
should end with a brief summary of our collective opinion at this point in
time about the status funding for human and medical genetics. For the
purposes of developing that collective opinion, I would like to schedule
a committee meeting at the Vancouver meeting of the ASHG, early enough
in the meeting so that that collective opinion can be organized and
expressed at the business meeting. 1 suggest that we meet on October
4th at 5:00 p.m. in room 201 at the Hotel Vancouver, the site of the
annual meeting. Arrangements have been made for a "no host" dinner in
that room, which means that you can order your dinner there and charge
it to your room if you like. Alternatively, you can wait to have dinner
until after the committee meeting. Please let me know as soon as possible
whether or not you are coming to the annual meeting, and whether or not
there is a conflict with the time I have suggested. Let me turn now to
a summary of the data collected so far.

I will deal first with RO-1, or individual grant applications.
Two relevant studies have been done. The first is a study by Michael
Gough, while he was a grants associate assigned to the genetics program
of NIGMS in 1976. The essence is as follows:

a. In 1976, there were 442 applications to the genetics program
of NIGMS, of which 28 were human or clinical (6%). This
represents a fall off from 17% in 1974, the last time
this was determined.

b. The median priority score of clinical or human grant appli-
~ cations was 245, versus 215 for non-human grant applications.
This 30-point differential is very important in terms of
proportion funded, although this wasn't actually determined. |
In 1974 the medians were 250 human, 190 non-human, even
worse.

c. Looking at grants reviewed by the genetics study section,
irrespective of institute assigned, the same trends emerged,
i.e., poorer median priorities for human versus non-human
applications, and most of the applications (71%) are non-
human,
Page Two

Second, is the study we have done this summer of ASHG members
and their RO-1 grant applications to NIH versus all RO-] applications
to NIH. The data from NIH are in and show that ASHG members do as well
as the rest of NIH applicants on priority scores and proportion of
applications funded. ASHG members have actually done better on dollars
awarded, averaging almost $8,000 more/award over the last 10 years.
These figures should be reassuring to any paranoia about the fate of
applications from ASHG members, at least in relation to the total uni-
verse of applications. These latter figures do not of course deal with
specific areas such as human and clinical genetics and genetic counseling,
to which I will return in a moment. Also, the figures are not reassuring
to any who may have thought of human genetics as a growth field. Appli-
cations from ASHG members comprised 2% of all applications in 1968, and
only 1.8% so far in 1978. (1978 is not unusual - 1977 is comparable and
1976 is worse.) Since the rate for funding applications of ASHG members
is comparable to all of NIH, this also means a slightly smaller share
of the total funded applications for ASHG members. Thus, as reflected
in these figures, human and medical genetics is not growing quite as fast
as the rest of biomedicine in terms of the number of investigators funded.

Putting these two studies together, I would point out first
that the human and clinical genetics applications may be a relatively
small part of the ASHG applications. For example, in 1976 the genetics
program of NIGMS received 442 applications, 28 of them human or clinical.
The genetics study section reviewed an additional 44 human or clinical
applications which were sent to other institutes, making a total of 72
Known human or clinical genetics applications to NIH for 1976. In 1976,
ASHG members put in about 200 applications. Thus, even if ASHG members
put in all 72 human or clinical genetic applications, this would stil]
only represent about one-third of all ASHG member applications. Thus,
the performance of human and clinical genetics grant applications may not
be reflected very well in the performance of the Society membership as a
whole since non-human applications may dominate the figures.

Summarizing points regarding RO-1 applications:

1. Clinical and human genetics grant applications appear to
fare badly. This appears to be true of whether or not
the grant application ends up at NIGMS or at a categorical
institute. This result could be because the clinical and
human genetics grant applications are poorer than other
applications, or because they are not evaluated appropriately,
i.e., they are compared to non-human applications. Of course,
the results could be a combination of both factors.

2. A second major reason for so few funded clinical or human
genetic applications, at least as supported by NIGMS, and
reviewed by the genetics study section, is the smal] number
of applications.

3. The ASHG membership does average in terms of getting funded
at NIH and above average in dollar amount awarded.
Page Three

4. It appears, however, that the majority of ASHG grant ap-
plications may be non-human in subject matter.

The above analysis does not take into account program project
and center applications.

For your interest, I include copies of a memorandum from NIH
which shows the growth in funding of the genetics program of NIGMS since
its inception, related to the growth of NIGMS and to NIH in general.
These figures show that genetics support in the genetics program of NIGMS
is growing more rapidly than the total budget of NIGMS and keeping pace
with that of NIH. However, I hasten to point out that this is not a good
measure of the relative growth of funding for human and clinical genetics.
With the exception of the genetics centers, it appears that around 90%
of the genetics program support is for non-human work. Of course, the
genetics centers represent significant funding, somewhat over $5 million
direct costs currently, and to the extent that the centers are carrying
out human and medical genetics research, this boosts the total support
of NIGMS for human and clinical genetics research to perhaps 20% of the
genetics program research budget.

It is difficult to assess funding support in terms of dollars
for human and clinical genetics in the categorical institutes of NIH.
Genetics is so mixed in with so many diseases that I believe it is vir-
tually impossible to deal with this area. For example, is the recent
initiative in diabetes new funding for human and medical genetics?
Thus, we must admit of some vagueness in this area. However, if we assume
that those applications with a primary thrust in genetics would be re-
viewed by the genetics study section, we do have the 1976 information
that there were 44 such applications. If we assume 33% funding (the
overall average for 1976), then perhaps 15 were funded at an average award
of $50,000, adding up to less than one million dollars in 1976.

Finally, I have accumulated a little +nformation from the
National Foundation for the years 1975-76 and 1976-77. The national
foundation breaks its grants into three categories: clinical, basic,
and starter. All grants deal with birth defects, but only a portion
deal with what we might call genetic birth defects. That is, their
grant applications also deal with acquired diseases such as those caused
by viruses. I have reviewed the titles and abstracts from the funded
applications for the two years mentioned, and have broken them down into
genetic and non-genetic, as indicated in the following table. As can
be seen, about 75% of the funded research appears to be genetic in
content. Within the 75% genetic funded research, and omitting the starter
category, about 20% is clinical. Interestingly, this is fairly close to
the proportion of the genetics program of NIGMS which appears to be
clinical. As can be seen from the table, the clinical category grew by
about 33% between the two years, whereas the basic actually decreased
Slightly from one year to the next.

Looking at the picture from the total dollars standpoint, the
genetics program of NIGMS provides approximately $5 million direct
Page Four

costs for genetics centers which have a large component of clinical and
medical genetics research. The genetics program of NIGMS also funds some
clinical and human genetics research of a non-categorical nature. As of
the last measure of this in 1976, it comprised 6% of all funded applica-
tions. That being the case, somewhere around an additional two-and-a-half
million dollars of the genetics program of NIGMS may go towards human and
clinical genetics research. As of 1976-77, the National Foundation pro-
vided 1.2 million for clinical and genetics research. An unknown amount
of clinical and human genetics research goes on in the categorical in-
Stitutes of NIH, but in terms of support for grants in which the primary
thrust is genetic, the support may be only of the order of $1 million.
The above, then, are the numbers that we have to deal with. Our next
problem is to give our assessment of whether the current support for
human and clinical genetics is adequate. Obviously, answering this
question will have very subjective overtones. One could take the data

I have collected on the performance of the ASHG membership and, putting
this together with the funding for clinical and human genetics at NIGMS,
the National Foundation, and the new initiatives at certain categorical
institutes, such as in diabetes, and say that funding for human and
clinical genetics is healthy, or at least as healthy as other sectors

of biomedicine.

More specifically, the evidence to this point can be enumerated
as follows:

1. The median priority scores and the proportion of applications
funded for ASHG members is as good as the rest of NIH as a
whole.

2. Society members actually attract on an average of $8,000
more per funded application.

3. Approximately $5,000,000 direct casts of NIGMS's genetics
program budget is assigned to genetics centers.

4. Another two or three million dollars of NIGMS's genetics
program budget may go towards funding of clinical and
human genetics.

5. As of 1976-77, $1.2 million of the National Foundation's
budget went toward the support of clinical and human genetics.

6. A difficult to define amount of funding in categorical
institutes of NIH goes towards human and medical genetics
funding.

On the other hand, one can make the opposite case:
1. The number of applications for human and clinical genetics,

at least as received by NIGMS and reviewed by the Genetics
Study Section, is smal] and appears to be declining.
Page Five

2. The median priority scores for human and clinical genetics
applications are substantially lower than those for non-
human applications.

3. The major programs of the categorical institutes which
deal with genetic diseases or diseases that have a strong
genetic component are not really. support of human and
clinical genetics for the most part. That is, for example,
the initiative in diabetes supports a wide range of studies
in this disease, only a small part of which is truly genetic.

4, The identified support for human and clinical genetics is
rather modest (perhaps $10 million).

5. This support is modest particularly in reference to the
large number of genetic diseases and other clinical and
human genetics problems with which we are faced.

6. There is an alarming fall-off in the amount of research
initiated by M.D.‘s (see figure in enclosed editorial]
proof). To the extent that human and clinical genetics
is participating in this decline in M.D.-related research,
there is cause for alarm that there will be inadequate
clinicians to carry out the required clinical genetics
research. While inadequacy of funding is surely not the
sole reason for this decline in M.D.-related research, we
cannot expect a turnaround in any particular field in the
absence of adequate funding.

You may all have additional arguments to place on one side of
the ledger or the other. In the final analysis, what our committee is
asked to do is to give our best judgment of whether or not funding is
adequate. Therefore I suggest that we do some thinking about this between
now and October 4 and then discuss this area in our committee meeting.
Particularly for any one of you who may not be able to make it to the
meeting, you may wish to drop me a note concerning your thoughts. In any
case, I would like to be made aware of anyone who cannot make it to the
meeting or who has a conflict in time.

Sincerely yours,

A Seervge x (Src

George J. Brewer, M.D.
Professor, Human Genetics
and Internal Medicine

Chairman, ASHG Committee

GJB:ral
Enclosures