APPENDIX 13
Memorandum submitted by the British Society
for Human Genetics
What effect could the use of test results have
on research in the UK?
The BSHG would like to differentiate between
the generation of results from recognised service laboratories
and from research laboratories. In the former case we understand
that only results of tests approved by GAIC can be divulged to
an insurance company. These tests are already understood and data
generated from them is reliable. We would however caution against
reading more into approved test results than the current scientific
evidence base allows. For instance a particular genotype may raise
the risk of the development of a disease but there remains a wide
spectrum of age of onset or severity and course that cannot be
predicted with certainty from the genotype. This level of uncertainty
is the subject of research and further work in this area leading
to greater understanding of the relationship between genotype
and phenotype would be welcome.
In the latter case—test results generated
as a result of research projects—we are firmly of the view
that the existence of such results should not be required to be
divulged for insurance purposes. These tests will not be approved
by GAIC and are therefore irrelevant for insurance purposes. Any
such requirement would inhibit patients and their families from
willing participation in research studies and would be considered
an unethical pressure on subjects.
To your knowledge, what scientific evidence have
those involved in the area based their decisions upon, and how
reliable is it?
The tests currently considered by GAIC have
been based on a sound body of scientific evidence. However as
pointed out above the relationship between genotype and phenotype
(disease course and severity) in nearly all genetic conditions
is poorly understood. Great caution should therefore be exercised
in going beyond the current evidence base.
How effective do you feel the current regulatory
system is?
We are aware that some genetic professionals
involved in the regulatory mechanism are uneasy at attempts to
push the system to the limit of the boundaries set. In our view
the system should be reviewed in the light of the experience to
date and in the context of international thought and policy making
in this area.
22 January 2001
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