2009 Vienna - European Society of Human Genetics

Laboratory and quality management
P15.02
Whole genome and transcriptome amplification in large
biobanks
N. Klopp1 , T. Illig1 , C. Korfharge2 , H. Wichmann1 ;
1 2 Helmholtz Zentrum München, Munich-Neuherberg, Germany, QIAGEN
GmbH, Hilden, Germany.
Biobanks are a key resource in unravelling the molecular basis of diseases,
identification of new targets for therapy and improvement of
attribution in drug discovery and development. The scientific trend in
biobanking shows the need for stable techniques for amplification of
biomaterials, which can be used for samples stored under very different
conditions. The focus of the project is the standardisation and
validation of the innovative techniques of whole genome amplification
(WGA) and whole transcriptome amplification (WTA) in the context of
biobanks. A general standardized protocol for WGA and WTA procedures
that use Phi29-DNA-polymerase in biobanking will be developed.The
major aims of our project are:
1. To establish standardized WGA protocols for large biobanks
2. To develop standardized WGA tools to recover genomic DNA, which
is in plasma or
serum samples and from FFPE- tissue or blood spots
3. To optimize the WGA procedure by extensive quality control measures
of WGA
products
4. To develop and establish WTA of large biobank samples
5. To optimize WTA procedures by extensive quality control of WTA
products
Furthermore, the concept of the project is to transfer the results of
WGA and WTA solution to national and international organisations in
the field of biobanking. The development of the proposed, innovative
and specialized tools and customized solutions will help to expand and
secure biobanks.
P15.03
Finding the right song : - introducing clinical test criteria for
cystic Fibrosis (cFtR) and Fragile X (FmR1) molecular testing.
P. W. Lunt 1 , &. Project Team 2 ;
1 (Bristol) Clinical adviser to UK Genetic Testing Network (UKGTN), Bexley
(ukgtn@bexley.nhs.uk), United Kingdom, 2 UKGTN, Bexley (ukgtn@bexley.nhs.
uk), United Kingdom.
Due to the volume of requests, despite low individual cost, tests for
Cystic Fibrosis (CFTR gene) and Fragile X (FMR1 gene) make up 2
of the leading 5 conditions contributing to total UK cost of DNA testing
in clinical service. The UKGTN promotes the development and use
of clinical testing criteria for single gene disorders to ensure clinical
appropriateness of newly available DNA tests offered to the National
Health Service. Following a strategic decision to develop testing criteria
for the commoner high volume conditions, two workshops of experts
were organized in 2008 to formulate clinical testing criteria for CF (or
CFTR-related disorders) and FraX (and related disorders). For CF, 7
different clinical scenarios (fetal echogenic bowel; symptomatic child;
adult with bronchiectasis; pancreatitis; absent vas; carrier testing; reproductive
donor) and for FraX, 5 scenarios (learning-disabled male
child; female; adult; FXTAS; POF) were separately considered, and
criteria developed. Most dovetail to relatively tight clinical definitions
of the target population (eg. bronchiectasis must be CT scan proven
with a not-normal sweat test and/or appropriate bacterial flora; fetal
echogenic bowel must be ‘as bright as bone’ as an isolated anomaly
and with obvious other causes excluded; ovarian failure must be at