The House of Lords Science and Technology Committee has published a report on Genomic Medicine which argues that recent developments in genomic science stemming from the sequencing of the human genome represent a unique opportunity for real advances in medical care and that the Government and the NHS must take a range of steps to ensure that these advances are realised.
Original news:
Responses to Online Genomic Medicine report published
Original report:
Genomic Medicine
Related news:
BSHG welcomes the House of Lords report on Genomic Medicine

The first over-the-counter paternity test kit will be on sale within weeks. The £30 pack will allow a man to check his DNA against a child's to identify whether he is the biological father. International Biosciences, the British company launching the kits in chemists, claimed they were legal, safe and at least 99.9 per cent reliable. But medical ethical experts warned that DIY paternity tests would foster a 'culture of suspicion' and could cause heartbreak for rejected children.

A survey from University of Michigan shows that more than three-quarters of parents would be willing to permit the use of their children’s newborn screening samples for research purposes if their permission were obtained beforehand. This U.S. national survey was conducted as part of the CS Mott Children’s Hospital National Poll on Children’s Health to shed light on the emerging issue of how to square parents’ concerns about privacy with medical researchers’ desire to use the amazing array of health data available in newborn blood samples.
Original study:
Not without my Permission: Parents' Willingness to Permit Use of Newborn Screening Samples for Research

After gene-testing businesses were criticized by state regulators last year for marketing to California residents without a license to perform clinical laboratory tests, the industry decided it was time for new regulations — which it decided to write. A bill drafted by 23andMe and introduced by state Sen. Alex Padilla, D-Van Nuys, would exempt gene-testing firms from requirements faced by other kinds of labs while adding new privacy protections for consumers. The goal of the proposed legislation is to help the fledgling industry gain public trust.

Findings published last week suggest that people are not troubled upon learning they are at higher risk of developing Alzheimer's disease. Writing in the New England Journal of Medicine, researchers at the Boston University School of Medicine, US, led by Dr Robert Green, measured participants' anxiety levels following results of a genetic test. The paper arrives amidst debate on how harmful direct-to-customer genetics testing – offered by companies such as 23andMe and DeCodeMe – might actually be to individuals.
Original study:
Disclosure of APOE Genotype for Risk of Alzheimer's Disease
Related editorial:
Effect of Genetic Testing for Risk of Alzheimer's Disease

This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. The authors present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. They argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

Although its performance was already established in independent laboratories, so far, no inter-laboratory collaborative programs have been undertaken to fully validate the Multiplex Ligation-dependent Probe Amplification (MLPA) method. The ultimate goal of this Eurogenetest collaborative study involving a group of laboratories was to help new users implementing MLPA in their lab, as well as to put forward some important parameters to be tested during a single-laboratory validation.

The German Parliament has passed a new law on genetic testing. The law is likely to be promulgated and thus come into effect later this year. Eurogenest here provides an inofficial translation of the act.

Dans un arrêté, publié le 23 juin dernier, la ministre de la santé fixe les règles de bonnes pratiques en matière de dépistage et de diagnostic prénatals avec utilisation des marqueurs sériques maternels de la trisomie 21. Sont présentés les principes d’information, de demande et de consentement pour toute femme enceinte, quel que soit son âge, ainsi que les modalités du dépistage associant le dosage des marqueurs sériques et les mesures échographiques de la clarté nucale et de la longueur cranio-caudale. Un second arrêté, publié le même jour, définit les pratiques relatives à l’information, à la demande et au consentement de la femme enceinte à la réalisation d’une analyse portant sur les marqueurs sériques maternels et à la réalisation du prélèvement et des analyses en vue d’un diagnostic prénatal in utero.
Related document:
Arrêté du 23 juin 2009 relatif à l'information, à la demande et au consentement de la femme enceinte à la réalisation d'une analyse portant sur les marqueurs sériques maternels et à la réalisation du prélèvement et des analyses en vue d'un diagnostic prénatal in utero prévues à l'article R. 2131-1 du code de la santé publique

In this study, researchers recount here their experience with the evolution of cancer genetic services in a community setting, focusing on collaboration with non-genetics providers to offer genetic testing for hereditary cancer. This approach allows for the most effective use of genetic counselors’ expertise for challenging cases, and enables the patient to remain within their community to allow for better access to resources for long-term follow-up.

Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. Based on the continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM, this study points out that it is essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.

The Age of Personalized Genomics conference will present an international forum for in-depth discussion and debate on the ethical, legal and social controversies that characterize the rapidly developing field of personalized genomics. The conference will bring together leading experts in law, genomic medicine and research, communication studies, and other fields. It will be held on September 16 - 18, 2009 in Banff, Alberta, Canada. Key topics to be addressed include: Current state of the science, Research ethics and governance challenges, Integration of personalized genomics into health care, Media and popular representation of personal genomics, Commercialization of personalized genomics and regulation of direct-to-consumer genetic testing.

This event will take place September 17 – 18 2009 at Leiden University Medical Centre, Netherlands. The workshop will address basic principles of High Resolution Melting Curve Analysis (HRM) technology and new developments, but will most of all specifically focus on its application in Genome Diagnostic Laboratories. In this respect it will address topics such as, how to design and set up an HRM gene test including genotype analysis of frequent occurring polymorphisms, diagnostic guidelines, other technical applications, and most of all HRM data analysis and interpretation.

ALFRED is a free, web-accessible, curated compilation of allele frequency data on DNA sequence polymorphisms in anthropologically defined human populations. Data in ALFRED are assembled from the widely dispersed literature and unpublished sources and are linked to the specific publication or source as well as to molecular and ethnographic databases. ALFRED is supported by a grant from the U.S. National Science Foundation to be an international resource for research and teaching.