Essay Questions Flashcards
Compare and contrast different methods that can be used to detect mutations that may be present at low levels.
Discuss the limitations of the techniques and give examples of clinically relevant situations when low level mutation detection is important.
For the following referral reasons, provide a brief explanation of a possible testing strategy that could be used. Please describe a different laboratory technique for each referral reason, and include a description of advantages and disadvantages of the technique chosen.
1) Parents of a child with DiGeorge syndrome detected by microarray
2) A 15 year old girl with primary amenorrhea and short stature
3) A 7 year old boy with global developmental delay
Discuss the molecular mechanisms by which mutations in the FMR1 gene cause different phenotypes.
A couple have a son with a clinical diagnosis of Prader-Willi syndrome.
They are planning to have another child, and want to know what their recurrence risk is.
What tests would you need to do on the proband and/or the parents to know this, and what might it be?
Discuss the impact that next generation sequencing will have on the delivery of genetics services over the next five years.
What are the challenges and opportunities associated with the introduction of this technology?
Outline the Genetic causes of male infertility
Give examples of laboratory techniques, including the basis on which they work, which may be used to investigate those causes.
A couple have recently been told their 1 year old daughter has spinal muscular atrophy (SMA1).
They want to try for another pregnancy.
What methods of prenatal testing would be available to them and at what stage of the pregnancy?
Describe 2 of these methods in detail giving the advantages/disadvantages of each.
The use of array comparative genomic hybridisation (aCGH) for prenatal referrals has been implemented within various diagnostic genetics laboratories worldwide.
Describe the issues (biological, scientific, technical and ethical) which should be taken into consideration prior to implementation of this service.
There is increasing demand for molecular profiling of tumours.
Using examples from lung, colorectal and melanoma discuss the druggable gene targets that should be included on panel testing now and in the future.
Discuss the diagnostic and prognostic value of identifying acquired cytogenetic abnormalities in acute leukaemia’s
Given that the NHS is suffering from a huge deficit in funding all Trusts within the NHS are looking at ways of improving their financial situation whilst still maintaining patient care.
Outline the purpose of a cost improvement plan (CIP) and explain in detail the steps involved in the process.
Identify an area in your lab that could benefit from a CIP.
Discuss the benefits and challenges of sharing patient data and information nationally and globally, in this new Genomic era.
What are the particular benefits and challenges to Healthcare Professionals, to Patients and their Families and to Populations as a whole.
What barriers would need to be overcome for this to become day to day practice?
Do the benefits outweigh these barriers to all the above mentioned groups?
Review the current range of genetic diagnostic services for diseases where epigenetic mechanisms play a role in disease pathogenesis.
Epigenetics is a general scientific principle that refers to changes to the genome that do not involve a change in the nucleotide sequence and there are many current services where the manifestation of disease is mediated through epigenetics. The earliest examples of epigenetic mechanisms came from disorders studied by cytogeneticists and the best answers drew on examples from both cytogenetics and molecular genetics, however it was sufficient to illustrate from either one.
The examiners were not looking for an exhaustive list, however the best answers drew from diverse examples including (but not limited to):
- X-linked diseases (methylation/lyonisation),
- Imprinted diseases (eg PWS, AS, BWS, RSS, Temple and Wang syndromes),
- Diseases mediated by positional effects (eg FSHD),
- Diseases caused by genes that effect DNA modification (eg MECP2),
- Chromatin modelling disorders (e.g. Kabuki, Sotos, etc )
- Diseases mediated by non-coding RNAs (eg snRNAs; PWS/AS, BWS).
- Methylation in cance
How does your quality management system contribute to the quality of results obtained in the laboratory?
- All aspects of the laboratory management system must be discussed including
- strategic
- managerial
- data
- documentation management
- process management
- laboratory/analytical aspects
