CanGèneTest - Latest newsletter

Consultation on newborn screening for Thalassaemia

Sat, 21 Jan 2012 19:48:11 -0500

The NHS Sickle Cell and Thalassaemia Screening Programme is seeking the views of stakeholders and interested parties on the recent report - Newborn Screening for Thalassaemia. All comments must be received by 21st March 2012. Original report: Newborn Screening for Thalassaemia

Most parents who get tested for breast cancer genes share results with their children

Sat, 21 Jan 2012 19:45:46 -0500

A new study has found that when parents get tested for breast cancer genes, many of them share their results with their children, even with those who are very young. Published early online in CANCER, a peer-reviewed journal of the American Cancer Society, the study also revealed that most parents think that their children are not distressed when they learn about the test results. Original study: When parents disclose BRCA1/2 test results: Their communication and perceptions of offspring response

Personalised genetic tests no more useful than family history

Sat, 21 Jan 2012 19:39:03 -0500

A new study published in Genetic Epidemiology has reported that genotyping provides no additional medical benefit over standard predictive information such as medical and family history. Researchers recruited over 3000 recipients of the Health Compass service from direct-to-consumer (DTC) genetic test provider Navigenics, which provides an estimate of risk for fifteen conditions. Study participants provided self-reported personal medical and family history information, which was used to predict risk, and the two measures of lifetime disease risk were then compared. Original study: Association of direct-to-consumer genome-wide disease risk estimates and self-reported disease

Is there a doctor in the house? The presence of physicians in the direct-to-consumer genetic ...

Heidi Carmen Howard and Pascal Borry — Sat, 21 Jan 2012 19:31:29 -0500

Over the last couple of years, many commercial companies, the majority of which are based in the USA, have been advertising and offering direct-to-consumer (DTC) genetic testing services outside of the established health care system, and often without any involvement from a health care professional. In the last year, however, a number of DTC genetic testing companies have changed their provision model such that consumers must now contact a health care professional before being able to order the genetic testing service. In discussing the advent of this new model of service provision, this article also reviews the ethical and social issues surrounding DTC genetic testing and addresses the potential motivations for change, some barriers to achieving truly appropriate medical supervision and the present reality of DTC genetic testing for some psychiatric and neurological disorders.

Newborn Blood Spot Card Review 2011 – Consultation

NHS — Sat, 21 Jan 2012 19:28:03 -0500

As the newborn blood spot card has been in use for nearly two years, the UK Newborn Screening Programme Centre (UKNSPC) is reviewing the current content and layout. A consultation with stakeholders was held for four weeks and closed on 14th November 2011. A consultation report detailing recommended revisions for consideration is now available. The UKNSPC advises that a new blood spot card will not be in circulation before summer 2012.

Screening in the UK 2010-11: Effective Policies and Programmes

Sat, 21 Jan 2012 19:25:57 -0500

Annual report from the UK National Screening Committee, focusing on policy development and screening programmes across the UK. Related document: Screening in England 2010-11

Health care providers and direct-to-consumer access and advertising of genetic testing in the ...

Melanie F Myers — Sat, 21 Jan 2012 19:17:16 -0500

This review provides a brief overview of direct-to-consumer (DTC) advertising and the regulation of pharmaceuticals and genetic tests in the United States. It highlights recent changes in the regulatory culture regarding genetic tests that are sold to consumers, and discusses the impact on health care providers of selling and advertising genetic tests directly to consumers.

How novel molecular diagnostic technologies and biomarkers are revolutionizing genetic testing ...

Linnea M Baudhuin, Leslie J Donato and Timothy S Uphoff — Sat, 21 Jan 2012 19:15:03 -0500

This article discusses how some of these emerging novel molecular diagnostic technologies and analytes, such as next-generation sequencing, chromosomal microarray, microRNAs and circulating fetal nucleic acids are revolutionizing patient care and personalized medicine.

Verification of Performance Specifications of a Molecular Test: Cystic Fibrosis Carrier Testing ...

Felicitas L. Lacbawan, Karen E. Weck, Jeffrey A. Kant, Gerald L. Feldman and al. — Thu, 26 Jan 2012 19:43:31 -0500

The objective of this study is to provide an example of the verification of a specific qualitative in vitro diagnostic test: cystic fibrosis carrier testing using the Luminex liquid bead array (Luminex Molecular Diagnostics, Inc, Toronto, Ontario). Results show that protocols for verification of in vitro diagnostic assays may vary between laboratories. However, all laboratories must verify several specific performance specifications prior to implementation of such assays for clinical use. The authors provide an example of an approach used for verifying performance of an assay for cystic fibrosis carrier screening.

First Trimester Screening for Fetal Aneuploidy (restricted access)

Yair Blumenfeld — Thu, 26 Jan 2012 19:45:43 -0500

First trimester screening for fetal aneuploidy is now the standard of care for pregnant women residing in the United States and other developed nations. Today screening includes both biochemical and ultrasonographic parameters; however, ongoing research and advances in ultrasound and cell-free fetal DNA make this a rapidly evolving and exciting field. For example, it is conceivable that noninvasive fetal genotyping in the first trimester may one day (not so distantly in the future) be incorporated into routine screening paradigms. This review aims to explore advances in first trimester screening and also discusses several potential future directions.

Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada

Alessandra Duncan, Sylvie Langlois and al. — Sat, 21 Jan 2012 19:07:23 -0500

The objective of this technical update is to summarize for obstetrical care providers the current literature on array genomic hybridization in prenatal diagnosis and to outline the recommendations of the Canadian College of Medical Geneticists regarding the use of this new technology with respect to prenatal diagnosis.

Testing the ethics of genetic testing in sports

Roger Collier — Sat, 21 Jan 2012 19:04:25 -0500

Many genetic researchers and academics have raised questions about the scientific validity of genetic tests in sports, claiming they have little predictive value. Some critics have also raised another concern: Is it ethical to test people, particularly children, for athletic potential? Related article: Genetic tests for athletic ability: Science or snake oil?

ATELIER - Validation des méthodes de diagnostic des tests ...

Sat, 21 Jan 2012 19:02:43 -0500

Les tests de diagnostic gÃ©nÃ©tique doivent Ãªtre validÃ©s prÃ©alablement Ã leur mise en application au diagnostic chez les patients. La validation des tests de diagnostic constitue une exigence de normes dÂ’accrÃ©ditation dont la norme ISO 15189. Lors de cet atelier, nous examinerons les exigences de la norme ISO 15189 en la matiÃ¨re, afin que vous puissiez les appliquer dans votre laboratoire. LÂ’activitÃ© aura lieu les 15 et 16 mars 2012 Ã St-Denis La Plaine en France. La date limite dÂ’inscription est le 10 fÃ©vrier 2012.

Genomic Disorders 2012

Sat, 21 Jan 2012 19:00:37 -0500

The event will be held in Hinxton, Cambridge, UK, March 21-24, 2012. The meeting aims to bring together scientists and clinicians interested in genomic variation in humans and the mechanisms by which it exerts its phenotypic effects. This yearÂ’s meeting will discuss the latest findings relating to the genomic basis of rare disorders, and the role of rare variants in common disease, as these can provide such powerful insights into human biology.

2012 ACMG Annual Clinical Genetics Meeting

Sat, 21 Jan 2012 18:56:09 -0500

The conference will showcase the latest advances and breakthroughs in genetics research and their applications to medical practice and public health. It will take place in Charlotte, North Carolina, March 27-31, 2012. It will cover the following topics: Genetics, genomics, personalized medicine, genetic testing, exome sequencing, prenatal testing, cancer genetics.

Special Issue: Toward Diversity and Cultural Competence in Genetic Counseling

Sat, 21 Jan 2012 18:54:23 -0500

The Journal of Genetic Counseling, published for the National Society of Genetic Counselors, Inc., is a timely, international forum addressing all aspects of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technical developments and the concerns of individuals at genetic risk. The publication provides genetic counselors, medical social workers, medical and laboratory geneticists, and other health educators with a premier source of news, information and insight. The latest issue features a special theme Toward Diversity and Cultural Competence in Genetic Counseling.

GigaScience

Sat, 21 Jan 2012 18:51:51 -0500

GigaScience aims to revolutionize data dissemination, organization, understanding, and use. An online open-access open-data journal, it publishes 'big-data' studies from the entire spectrum of life and biomedical sciences. To achieve its goals, the journal has a novel publication format: one that links standard manuscript publication with an extensive database that hosts all associated data and provides data analysis tools and cloud-computing resources.