15/11/2007

1. You have to provide a laboratory service for a Caucasian population of 3 million. How would you go about this? Describe your strategy for staff and equipment and laboratory management 15/11/2007

2. Before introducing a new diagnostic service the following must be considered: • Is there a clinical need for the test • ie what is the prevalence of the disorder? • How many samples are expected? • Is the severity of disorder serious enough to require a genetic diagnosis? • Is there a clinical demand for the new service? • Is anyone requesting the service to be implemented? • Where will your referrals come from (your own health authority or externally)? • Is there a need for another lab to introduce the service if testing is currently available elsewhere?

3. Before introducing a new diagnostic service the following must be considered (2): • Does the service have a clinical utility? • Will a genetic test result facilitate or direct treatment? • Will a genetic test result allow predictive/prenatal testing to at risk family members? • Will a genetic test result allow preventative treatment? • Is a genetic test result useful, consider eg incomplete penetrance, effects from environmental factors • Current service providers • Is the service already being offered in an accredited laboratory or on a research basis? • Gene Dossiers

4. Before introducing a new diagnostic service the following must be considered (3): • What is the potential laboratory workload for the test, ie is mutation screening of big genes required or simple targeted tests • Obtain relevant and required expertise, may be clinical or scientific • Consider how long the service will take to set up (amount of validation work required, can existing resources and expertise be used or does new equipment have to be bought and experience gained in using it?)

5. Resource considerations: • The budget must be established to allow planning for staff, consumables, equipment, overheads etc • Can your costs be covered? ie can you offer the service at a competitive price and in a competitive turn around time without making a financial loss? • Is the service to be introduced into the existing workload (hump and trough) or is additional funding to be obtained (expansion)? This will depend on the anticipated workload and the nature of the new service • Define your target population

6. Staff strategy • The potential workload needs to be identified for working out staffing needs, (WLUs generated per member of staff). This will be based on the anticipated number of samples (prevalence and referral rate) and the amount of work required for each sample. This will in turn determine the price of the test (Some NHS trusts (eg Oxford!) work by allocating money / patient not money / service) • Work out what expertise are required for the service. Are the relevant skills and knowledge already in the lab or do people need to be trained, or do new scientists with experience in the field need to be recruited? • Decide how many people you require to run the service, this needs to include scientists, MTOs, senior staff, IT support, secretarial staff, quality management (not just the chiefs and indians!). Staffing costs can be built into to the final testing charges • Also need to consider HR issues for new staff, cost and process of recruiting • Decide on the staffing structure for the service

7. Equipment and Laboratory considerations • Consider which techniques are best for the service. This will be a balance of hands-on time, throughput, sensitivity and cost • Is new equipment needed? If so should it be leased or bought. This is often dependant on finances and therefore the trust exec, not linked to commissioning costs. Often a business plan is required to be pitched to the exec. (eg can lease at first then use income generated from the new service to purchase) • If present equipment can be used will the time spent on it have an adverse effect on other services, how will this be dealt with? • If new equipment needs to be purchased, do new service contracts etc need to be put in place and staff need to be trained to use it?

8. Equipment and Laboratory Strategy (1) • Background work • thoroughly research into the disorder(s), include clinical aspects, molecular genetics of disorder, inheritance patterns etc and decide on the clinical referral and acceptance criteria (this may include regular meetings with a clinician) • thoroughly research the technical aspects of the service, procure equipment, design assays, order in reagents, obtain positive controls, • Validation of techniques • try out the techniques and assays and make necessary adjustments, write SOP, screen a batch (or several if necessary) of samples (could be anonymised or potential patients who are negative for a differential diagnosis)

9. Equipment and Laboratory Strategy (2) • Implement service • ensure all staff working on the service are trained properly and are familiar with the SOP, authorise SOP, decide on how to manage the workload eg batching of sample/continual work flow (this may have to change in the future!), design worksheets, report templates, information folders, • Advertise service • EDDNAL, CMGS, Local website, posters at conferences etc • Wait for samples to arrive