9th August 2015
A working group on behalf of the Joint Committee on Genomics in
Medicine has published "Recommendations
for the use of chromosome microarray in pregnancy".
At the instigation of Dr Diana Wellesley, the JCGM organised a
multidisciplinary meeting "New genomic technologies and pregnancy"
in 2014. Proceeds of the meeting are available on the
RCPath website. The participants supported the use of CMA in
pregnancy and the development of a national approach to the
introduction of this technology into routine clinical practice.
A number of working groups were established after the meeting
to develop national guidance.
This report presents their recommendations. These are not
intended to duplicate laboratory best-practice guidelines, and have
followed a different process. The focus has been on achieving an
evidence-based and consistent approach to the indications for
testing, professional education, consent and patient and
information, the laboratory platform and variant interpretation and
8th August 2015
The Clinical Genetics Society has published a document
evolving role of the Clinical Geneticist".
Recognising the need to evolve and change (particularly as a
result of new technologies in genomic sequencing), this report
summarises the outcome of a workshop which focussed on defining the
future role of the clinical geneticist by examining what other
specialities will require from a clinical geneticist, which new
roles should be acquired, the training needs to deliver these, new
models of working and likely commissioning requirements.