Helen Lord, Oxford 22/10/2009

1. What are the main points you would include in design and maintenance of a web site for your service. Helen Lord, Oxford 22/10/2009

2. Why have a website Easily accessible information about the laboratory Services provided Contact information Advertising services world wide Will allow referrers to have an understanding of the extent of testing being undertaken Gives a brief description of the service/ disease Knowledge about the lab i.e. accreditation status, quality assessment participation (EMQN, NEQAS) Price of testing Clear information and easy site navigation (will have worldwideusers) – want easy navigation and clear concise pages (browser compatible)

3. Website users • Target audience • Patients and families • Health care professionals – laboratory staff, genetic counsellors, clinicians from different specialities. • Research groups • Students • Site management • Will the website require frequent updates, are there in-house resources available to do this. • Website accessibility • Needs to be fully accessible to users worldwide who may want to use this service. • Clear and concise

4. Content– Laboratory information • Contact details • Full UK address and phone numbers • Lab head / deputy head • Duty scientist details • Office hours • Referral guidelines • Specialist sample requirements • Acceptance criteria for certain genetic tests

5. Content – Services offered • Comprehensive list of the tests offered by the laboratory • Introduction to the disease • Full name of disease (and any other disease names in use), include abbreviations. • OMIM number – link to OMIM website • Brief description of disease and gene in question • Testing strategy • Any specific requirements for testing i.e. proforma etc…

6. Content- Testing information • Is a clinical questionnaire / Performa required before sample testing can be undertaken • have links to these available on the website so they can be easily downloaded. • The patient criteria required for testing to be undertaken • i.e. for a number of recessive disease testing is not undertaken in minors unless exceptional circumstances (cystic fibrosis testing). • From whom samples will be accepted for testing • For many disorders referral from clinical genetics or specialist consultants is mandatory – very important from a genetic counselling point.

7. Content – Testing strategy • How will the testing be undertaken • Whole gene(s) screen - HCM/DCM • Partial gene screen - Craniofacial service • Specific mutation testing – triplet repeats, kit testing – MLPA, CF testing. • Linkage analysis • Clearly state sequencing / mutation scanning, technique used and the sensitivity of this testing • Mention if family testing/ prenatal testing is offered • If the testing undertaken will differ depending on male or female patients – EFNB1 gene screen

8. Content – Target turn around times and costs • Majority of testing follows the white paper targets • 8 weeks per screen, 10 days for familial testing and 3 days for prenatal testing. • For multiple gene screens this may differ – important to include this information • Effect for counselling / follow up sessions, and for patients peace of mind. • For services outside the contracted area there will be a charge for tests, and also for some services charging is standard. The costs vary between diseases, therefore these need to be listed and kept up to date.

9. Content – Sample requirements • Type of sample accepted • Blood (EDTA?), DNA, CVS/Amnio, different tissues • May want to specify DNA quantities for large gene(s) screens • Downloadable referral forms and guidelines • Address to send samples too, and contact details of the duty scientist • Point of contact for referrals into the lab, and discussion of sample suitability, special requirements, cost of testing etc… • Include necessary information required before testing can begin • Proformas, pedigree/ family information, consent

10. Useful links • Internal links – across the site i.e. proforma • External links – The lab has no control over these therefore only link to trusted sites. • Gene clinics - provides information regarding the disease, and testing undertaken (American website) http://www.geneclinics.org/ • EDDNAL - European directory of DNA diagnostic laboratories and the services offered http://www.eddnal.com/ • UKGTN – Advises the NHS on genetic testing across the whole of the UK http://www.ukgtn.org/ • OMIM – A database of human disease and genetic disorders http://www.ncbi.nlm.nih.gov/omim/ • Specialist websites – MRC Holland… • NEQAS and EMQN

11. Maintaining the website Keeping the information available up to date Expansion of service – could lead to a more comprehensive screen than listed. New services being undertaken by the laboratory Costs of testing may change year on year, is important to include the most up to date costing – other laboratory budgets. Post publications / interesting cases Check Website works and external links still active Website links – addresses may change / expire, therefore need to ensure that all the links are correct. Some website links require a named contact (Orphanet), if this person leaves, it may cause these links to expire. Can you find the website through Google?