CanGèneTest - Latest newsletter

Just how feasible is pharmacogenetic testing in the primary healthcare setting?

Sun, 06 May 2012 18:34:01 -0500

The US FDA have approved a number of genetic tests and pharmacogenetic markers have been included in multiple drug labels. We are beginning to see the application of pharmacogenetics in secondary and tertiary care settings. However, application in primary care is not as common as was once anticipated. This leads to questions regarding the feasibility of pharmacogenetic testing in the primary care setting.

Genetic Test Results: Who Wants to Know?

Sun, 06 May 2012 18:32:41 -0500

Research by a Robert Wood Johnson Foundation (RWJF) Health & Society Scholar is at the heart of a groundbreaking, federally-funded study into how genetic testing might affect epilepsy patients and their families. Original study: What's at Stake? Genetic Information From the Perspective of People with Epilepsy and Their Family Members

The downside of genetic screening

Sun, 06 May 2012 18:29:55 -0500

On the surface, screening certain populations for health risks seems like a practice with many pros and few cons. It provides benefits in preventive medicine, family planning, medical research, diagnosing illnesses and other areas of health. There is, however, a downside to screening. Identifying risk is one thing. Deciding which course of action to take in view of that risk is a more complicated matter.

Newborn screening in Zhejiang, China

Sun, 06 May 2012 17:52:25 -0500

It has been 11 years since newborn screening started in Zhejiang in 1999. The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009. Results show that in 11 years, the Zhejiang newborn screening center screened more than 3.8 million newborns, and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based ...

Diana Wellesley, Helen Dolk, Patricia A Boyd, Ruth Greenlees and al. — Sun, 06 May 2012 18:16:18 -0500

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000Â–2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5Â–92%) and the prevalence of RCA (range 2.4Â–12.9/10 000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

Diagnostic Accuracy of Noninvasive Detection of Fetal Trisomy 21 in Maternal Blood: A ...

E.J. Verweija, J.M.E. van den Oeverb, M.A. de Boera, E.M.J. Boonb, D. Oepkes — Sun, 06 May 2012 17:51:53 -0500

Both pregnant women and providers of obstetric care are aware of the rapid advances in noninvasive prenatal diagnosis (NIPD) of fetal trisomies, and appear to look forward to its clinical introduction. The aim of this study was to review and critically assess the published literature on diagnostic accuracy of NIPD using cell-free fetal DNA or RNA in maternal blood to detect fetal trisomy 21. Results show that NIPD of fetal trisomy 21, using fetal nucleic acids in maternal plasma, appears to have a high diagnostic accuracy. Large-scale prospective studies are awaited before implementation in clinical practice.

Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal ...

Sun, 06 May 2012 18:13:06 -0500

The objective of this study is to evaluate the results obtained from Quantitative Fluorescent (QF)-PCR and conventional karyotype analysis to determine the advantages and disadvantages of dual testing in prenatal diagnosis. Results show that selective dual testing is expected to achieve a serious beneficial economical outcome and reduce parental anxiety produced by ambiguous cytogenetic findings. However, the percentage of 0.1% undetected clinically significant abnormalities cannot be ignored. A suggestion would include the offering of a choice to the pregnant women, undergoing prenatal screening, by informing them about different approaches and various complications.

Is Genetic testing useful to predict type 2 diabetes?

Jason L. Vassy, James B. Meigs — Sun, 06 May 2012 18:03:28 -0500

The early identification of individuals at risk for type 2 diabetes (T2D) enables prevention. Recent genome-wide association studies (GWAS) have added at least 40 genetic variants to the list of already well characterized T2D risk predictors, including family history, obesity, and elevated fasting plasma glucose levels. Although these variants can significantly predict T2D alone and as a part of genotype risk scores, they do not yet offer clinical discrimination beyond that achieved with common clinical measurements. Future progress on at least two research fronts may improve the predictive performance of genotype information.

Frequency of known mutations in early onset PD; implication for genetic counseling: the CORE-PD ...

RN Alcalay, E Caccappolo, H Mejia-Santana and al. — Sun, 06 May 2012 18:01:12 -0500

The aim of this study is to assess the frequency and clinical characteristics of carriers of previously identified mutations in six genes associated with early onset Parkinson disease (EOPD) and provide empirical data that can be used to inform genetic counseling.

Telegenetics: a systematic review of telemedicine in genetics services (restricted access)

Jennifer S. Hilgart, Julie A. Hayward, Bernadette Coles, Rachel Iredale M — Sun, 06 May 2012 17:59:02 -0500

This review suggests that telegenetics may be a useful tool for providing routine counseling and has the potential to evaluate pediatric patients with suspected genetic conditions. Prospective, fully powered studies of telegenetics that explore the accuracy of diagnoses and patient outcomes are needed to allow informed decisions to be made about the appropriate use of telemedicine in genetics service delivery.

Genetic testing behavior and reporting patterns in electronic medical records for physicians ...

Jeremiah Geronimo Ronquillo, Cheng Li, William T Lester — Sun, 06 May 2012 17:55:15 -0500

The aim of this study is to characterize important patterns of genetic testing behavior and reporting in modern electronic medical records (EMRs) at the institutional level. In this study, genetic tests were often ordered by a diverse group of physicians for women of childbearing age being evaluated for diseases that may affect potential offspring. EMRs currently serve primarily as a storage warehouse for textual reports that could potentially be transformed into meaningful structured data for next-generation clinical decision support. Further studies are needed to address the design, development, and implementation of EMRs capable of managing the critical genetic health information challenges of the future.

UK NSC's policies

Sun, 06 May 2012 17:46:54 -0500

This is a complete list of all the UK National Screening Committee's policies. Some policies say that screening should be provided for everyone or some people, other policies that screening is not currently recommended. All UK NSC policies are reviewed regularly, usually on a 3 year cycle.