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                                13 MARCH 2001, Strasbourg

                                       JOHN BURN

6/2/52               Professor of Clinical Genetics

University of Newcastle upon Tyne, UK First Class Hon           BMedSci         1973 Human
University of Newcastle upon Tyne, UK                           MB,BS           1976 Medicine &
Doctorate of Medicine (Distinction), University of Newcastle,UK MD              1991 Human
Royal College of Physicians, London, UK                         FRCP            1989 Elected
Royal College of Paediatrics & Child Health, London, UK         FRCPCH          1997 Elected
Royal College of Obstetrics and Gynaecology London, UK          FRCOG           1998 Elected
Fellow ad              eundem

Professional History

1984 - 1991   Consultant Clinical Geneticist (Northern Region), Royal Victoria Infirmary
1982 - 1984   MRC Project Grant Holder, Institute of Child Health, London
1980 - 1982   MRC Clinical Scientific Officer, Institute of Child Health, London
1976 - 1980   Pre and post registration general medical & paediatric training, Newcastle

National and International Roles:

General Secretary                1989-1995         UK Clinical Genetics Society
EU Project Leader                1993-2001         CAPP Studies
Steering Group Member            1993-             Leeds Castle Gp (Int. Polyposis Registries)
Subject Editor                   1994-1998         OMIM (0nline textbook)Baltimore, USA
Editorial Board                  1994-             European Journal of Human Genetics
Research Review Panel            1994-1997/1995-   WellBeing/World Cancer Research Fund
Board Member                     1994-1997         European Society of Human Genetics
Genetics Advisor                 1995-1998         Ionising Radiation - NRPB
Editorial Committee              1995-             American Journal of Medical Genetics
Chairman                         1996-1998         UK Cancer Family Study Group
Sub-Committee Member             1996-             UKCCCR (Colorectal Cancer)
Regional Specialty Advisor       1996-1999         Royal College of Physicians (London)
Regional College Advisor         1996-             Royal College of Physicians (London)
Task Force: Colon cancer         1996              Department of Health/NHS R & D
EU Project Leader                1996-1999         INTEGER (Neural Tube Defect Research)
Member                           1997-             Gene Therapy Advisory Committee (DoH)
Medical Advisory Board           1997-             Medical Research Council
Honorary Director ICRF           1998-             Clinical Genetics Network (programme grant)
Editorial Board                  1998              Journal of Medical Genetics
Editorial Board                  1998-             Familial Cancer Journal
Scientific Advisory Committee    1999 - 2002       Royal College of Obstetricians & Gynaecologists
Chairman Scientific Committee         1999 -        Tyneside Leukaemia Research Association
Medical Advisor                  1999-             Genetic Interest Group
Honorary Director, Clinical      1999-2006         Imperial Cancer Research Fund UK
Cancer Genetics Network
DV/433990EN.doc                               1
Member                    1999 -          Human Genetics Commission,
Fellow            2000-            The Academy of Medical Sciences
Chair Elect       2000-            Leeds Castle Polyposis Group

DV/433990EN.doc                2
Genetics, the study of inherited traits, was a medical backwater until very recently. Following the
rediscovery of Mendel’s work in 1900, it soon became apparent that the concept of the gene, an
inherited instruction which obeyed predictable rules, applied to humans as well as peas. Diseases
obeyed the principles of recessive or dominant inheritance depending, respectively, on whether both
copies or only one copy of a gene needed to be defective to cause a medical problem. By the 1960’s,
hundreds of genetic disorders had been characterised and some discoveries such as blood groups had
led to spectacular advances in health care. Here was the key to continued obscurity; when some
aspect of genetic knowledge became a key element of health care it became incorporated into the
relevant specialty. The rhesus blood groups were shown by geneticists to underlie the common
problem of babies born severely anaemic. Treatment of rhesus negative mothers to prevent them
becoming sensitised to the rhesus positive blood of their fetus could prevent this devastating disease
in future pregnancies. As a result this genetic test became standard care of all pregnant women.
Another good example is the testing of all newborn babies by the Guthrie test to exclude the rare
genetic disease phenylketonuria. If present this disease can be cured by avoiding foods containing the
amino acid phenylalanine. Untreated severe brain damage is inevitable.

The development of birth control and chomosome testing in pregnancy led to the emergence of
chromosome analysis, cytogenetics, and more recently the diagnostic molecular genetics laboratories
have developed to offer DNA based testing for genetic diseases. These could also be used in
reproductive planning and decisions on whether to undergo prenatal diagnosis. During the 70’s and
80’s countries such as the UK and Netherlands saw the development of Clinical Genetics as an
independent specialty acting at the interface of the new genetic laboratory technologies and their
application. The new specialty adopted a family based approach ensuring relatives were given the
opportunity to take advantage of reproductive choice and predictive tests for late onset diseases such
as Huntington’s disease. These clinicians became expert in the diagnosis of rare syndromes as
diagnosis is an essential prelude to accurate counselling. In countries with a health care system based
on direct specialist referral management of genetic disorders, the management of genetic disease has
developed on a more dispersed basis and laboratory services have evolved linked to university
departments and general pathology and biochemistry services.

As investment increases in genetic diagnostic and counselling facilities Europe is likely to see a
continued dichotomy; where there exist integrated genetic centres it is likely that there will be
investment in these whereas those countries with a less developed genetic service will see
development of genetics in other settings. Wherever development occurs, it must be pursued with
vigour if the benefits of the Human Genome Project are to be translated into improved health care.
There are some 6,500 recognised phenotypes and genes have been assigned to approaching a quarter
of these. Collectively, single gene disorders, chromosome defects and malformations with a major
genetic contribution affect 1 in 20 people by the age of 25. Genetic tests are likely to be of major
value in improved health care in these people and their families.

Development in this setting is also likely to achieve the greatest public support since the
direct benefits are apparent and can be seen to outweigh the potential threats of greater
activity in genetics. Concerns centre on the danger of a genetic underclass deprived of
adequate health and life insurance by the discovery of predisposition to late onset
disease. Another real concern is an exaggeration of existing inequalities in health with
increased access to genetic testing only for those able to pay, a danger increased by
recent decisions to allow patenting of human genes. There are fears that this will lead
to a reduction in the freedom of local health services to utilise genetic information in
provision of health care. Increased use genetic tests for less severe disorders could lead
to relaxation of the criteria to determine when a termination of pregnancy is indicated.
In turn this could devalue humanity. I am now a member of the Human Genetics
Commission, a broad based advisory group established by UK ministers to ensure such
anxieties are addressed without hampering desirable clinical service and research.

DV/433990EN.doc                                   3

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