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Clinical Cytogenetics
Interested in genetics?
Want to help diagnose genetic disease?
Then become a Cytogeneticist
Learn how to detect and interpret chromosome abnormalities
Use and develop techniques from the leading edge of genetic analysis
Clinical Cytogenetics in the NHS is a laboratory based science which involves processing and analysing the chromosomes of different types of samples with the purpose of detecting and interpreting chromosome abnormalities. These results are communicated to a wide variety of clinicians.
The work of the Cytogeneticist falls into three main categories: -
1. analysis of blood from individuals with a variety of problems including congenital abnormalities, learning difficulties, reproductive difficulties and sexual development problems;
2. prenatal diagnosis of chromosomal abnormalities from amniotic fluid or chorionic villus samples;
3. analysis of samples (usually bone marrow or blood) from patients with known or suspected haematological conditions, such as acute leukaemia, to aid in the diagnosis and management of the disease.
The samples are cultured and harvested to obtain cells in the metaphase stage of mitosis, which are then spread onto slides. The metaphases are then banded to reveal a specific, reproducible banding pattern on each of the chromosomes.
Analysis of these metaphase spreads is performed by counting the number of chromosomes present and by analysis of the banding pattern obtained on each chromosome pair.
A technique known as fluorescence in situ hybridisation (FISH), where fluorescently labelled DNA probes are hybridised to metaphase spreads, can be used to detect sub-microscopic deletions or as an aid in chromosome identification. Increasingly, FISH on non-dividing cells (interphases) is adding to the range of cell types available to cytogenetic analysis.
Detection and interpretation of these chromosome abnormalities is the role of the cytogeneticist. Although direct contact with the patient is rare for Clinical Cytogeneticists, they work closely with a range of health professionals, including Obstetricians, Paediatricians, Haematologists and Clinical Geneticists. The results of cytogenetic investigations can have a huge impact on the patient and sometimes their family, depending on the abnormality. The cytogeneticist must be knowledgeable about the effects of the abnormality and whether the abnormality may cause problems in offspring and therefore give appropriate advice. Accuracy is highly important, coupled with the requirement of rapid reporting, particularly with reference to prenatal diagnosis.
2 main grades of staff are
employed with Clincal Cytogenetics laboratories in the UK.
Genetic Technologists
As technical
specialists, Genetic Technologists will be expected to take responsibility for
sample processing, cell culture and preparation of chromosome materials.
Chromosome analysis, FISH, and an increasing number of molecular genetic
techniques will also be employed.
Clinical Scientists
As scientists, Clinical
Scientists in cytogenetics will
be expected to use their scientific skills, such as experimental design and problem
solving, in their daily role when faced with challenging situations. Furthermore,
service developments require thorough research and investigation before being
implemented. There are also a number of national and international scientific
meetings organised, which provide an ideal opportunity to present novel research and keep
abreast of current trends.
CAREER STRUCTURE
and
TRAINING
The career structure for both Genetic Technologists and Clinical Scientists is reflected in the common pay scale the NHS has for all
employees.
Genetic Technologists
Most Genetic Technologists within cytogenetics laboratories
are employed on band 5.
Training Programme
At present there is no National Programme of Cytogenetics
Training for Genetic Technologists although work on this is in progress. Most laboratories employ their own
competence based training scheme.
Registration
Genetic technologists are currently able to apply for
registration via the
Voluntary Registration Council.
This is the first step towards registration
with the Health Professions Council, and is a significant development in the
genetic technologist career.
Career
The band 5 payscale has
9 annual increment points and progress along this scale should continue in line
with a knowledge and skills framework. To move beyond band 5, to band 6 or above, the Genetic Technologist will need to obtain a post with
greater responsibility and a greater role in laboratory management.
Qualifications and How to Apply
Entry to Genetic
Technologist posts is possible without a degree or HND, although most employers
expect a biology-related BSc. Potential employers will be able to
advise on what qualifications are acceptable. Genetic Technologist jobs are advertised either in the local or national press
or on this website.
Clinical Scientists
Trainees are
employed on band 6 and remain on this band until registration.
National Training Programme
The National Training Programme
lasts for 2-3 years and has a modular structure reflecting the different sections
that exist within the cytogenetics laboratory. At the end of each module,
the trainee is assessed by an internal or external assessor to ensure that an
appropriate level of competence has been achieved. Research and
development skills are important and a project is a key part of the training
programme. A secondment of four weeks to another Cytogenetics laboratory
is also included, allowing trainees to broaden their skills and experiences. Successful trainees are be
awarded the Postgraduate Certificate
in Clinical Cytogenetics from the
Association for Clinical Cytogenetics following completion of the training
programme.
Registration
Progress from band 6 to band 7 occurs when state registration with
the
Health Professions Council
(HPC). This takes place after four years experience and requires further
professional development and consolidation on basic training, culminating in
submission of a 'Portfolio of Evidence' and an external assessment with the
Association of Clinical Scientists
(ACS) prior to application to the HPC.
Career
The
band 7 payscale has 10 annual increment points and progress along this scale
should continue in line with a knowledge and skills framework. To move beyond
band 7 and on to band 8, the cytogeneticist will need to obtain a post with
greater responsibility (e.g. Head of Section) and will require the Membership of the
Royal College
of Pathologists (MRCPath)
part 1 examination. Band 8 is divided into four bands (A-D) reflecting
different roles and levels of responsibility. Heads of laboratory are
posted around band 8D to band 9 with the expectation that such candidates will
have the full MRCPath qualification (part 1 and part 2)
Qualifications and How to Apply
Entrants to the Clinical
Scientist training programme should have at
least a 2nd class Honours degree in Genetics, a biological science or a science
degree with a strong genetics component. Most entrants are recruited via a National
Clearing House (details below) on an annual basis. Advertisements appear in the national
and scientific press in late January/early February of the year of entry with interviews
being carried out in the spring. Appointments are usually taken up in the autumn.
Trainees of this type are "supernumerary" i.e. they are extra to the staffing
requirements of the laboratory, and are recruited by the NHS regions on a fixed-term
contract.
Further details and application forms for these training posts can be obtained from:
The Clearing House also provides a handbook describing each of the posts available in England and Wales, and details of the application process. In Scotland the laboratories all advertise as a consortium in New Scientist and The Scotsman.
An alternative method of entry exists, where the trainee is part of the staffing structure of the laboratory and carries out a proportion of the diagnostic work instead of being supernumerary. This type of training post is less common.
All non-training posts within Cytogenetics are advertised in the general scientific press.
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Prepared
for the ACC by Steve Morris, Gavin
Cuthbert, Andy Beddow, Sarah Ryley and Claire Williams
© the
Association of Clinical Cytogeneticists, 1999; 2001; 2004;
2007
For any further
information
contact:
Steve Morris, Cytogenetics Unit, St. James's University Hospital, Beckett St, Leeds, LS9 7TF
stephen.morris@leedsth.nhs.uk
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