As the demands of scientific research and application for specimens increase rapidly, biobanks in China have been springing up over the recent years. This paper summarizes Chinese biobanks through investigation and survey on operative, managerial, ethical conditions and challenges of biobanks. At present, hospitals and research institutes in China set up and operate most of the biobanks, collecting human specimens to support clinical and scientific research. With the development of bio-industry and arrival of the big data era, biobanks need not only collect and store human and non-human specimens but also to manage the big data associated with these specimens.

A girl aged 6 presented with haematuria and her sister (aged 5) presented with haematuria and proteinuria. Family history showed multiple individuals suffering from end stage renal failure from the paternal side of the pedigree. Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulosclerosis (FSGS). Exome sequencing was undertaken in the proband's sister and grandmother. Genetic variants shared by both affected individuals were interrogated to identify the genetic cause of disease. Candidate variants were then sequenced in all the family members to determine segregation with the disease. A mutation of COL4A5 known to cause Alport syndrome segregated with disease from the paternal side of the pedigree and a variant in NPHS1 was present in both paediatric cases and inherited from their mother. This study highlights the advantages of exome sequencing over single gene testing; disease presentation can be heterogeneous with several genes representing plausible candidates; candidate gene(s) may be unavailable as a diagnostic test; consecutive, single gene testing typically concludes once a single causal mutation is identified. In this family, we were able to confirm a diagnosis of Alport syndrome, which will facilitate testing in other family members.

Several breast cancer risk prediction models have been validated in ethnically diverse populations, but none in Israeli high-risk women. To validate the accuracy of the IBIS and BOADICEA risk prediction models in Israeli high-risk women, the 10-year and lifetime risk for developing breast cancer were calculated using both BOADICEA and IBIS models for high-risk, cancer-free women, counselled at the Sheba Medical Center from 1 June 1996–31 May 2000. Women diagnosed with breast cancer by 31 May 2011 were identified from the Israeli National Cancer Registry. The observed to expected breast cancer ratios were calculated to evaluate the predictive value of both algorithms. Overall, 358 mostly (N = 205, 57·2%) Ashkenazi women, were eligible, age range at counselling was 20–75 years (mean 46·76 ± 9·8 years). Over 13·6 ± 1·45 years (range 11–16 years), 15 women (4·19%) were diagnosed with breast cancer, at a mean age of 57 ± 8·6 years. The 10-year risks assigned by BOADICEA and IBIS ranged from 0·2 to 12·6% and 0·89 to 21·7%, respectively. The observed:expected breast cancer ratio was 15/18·6 (0·8–95% CI 0·48–1·33) and 15/28·6 (0·52–95% CI 0·32–0·87), using both models, respectively. In Jewish Israeli high-risk women the BOADICEA model has a better predictive value and accuracy in determining 10-year breast cancer risk than the IBIS model.