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US regulators engage with tests and genomic medicine

2010-07-05T18:39:25-05:00

Following the revelation that the US Food and Drug Administration (FDA) now plans to start regulating consumer genomic services as �devices�, and the recent launch of the National Institutes of Health (NIH) Genetic Testing Registry, various additional regulatory involvements in genomic medicine have been announced. Related editorial: FDA, Congressional Interest in Direct-to-Consumer Genetic Tests May Signal Greater Focus on Safety

Newborn screening programmes including genetic analyses: limits and risks of negative consequences? (restricted access)

2010-07-05T18:15:29-05:00

Newborn screening for inherited disorders enables early identification of affected children and intervention to prevent or mitigate morbidity and mortality associated with these conditions. Since 1962, most areas throughout the world have developed newborn screening (NBS) programmes including for more than 50 serious disorders.1 2 While most diseases are screened by biochemical techniques only, the NBS programme for cystic fibrosis (CF), which is being implemented in an increasing number of countries (USA, UK, Spain, France, Italy, Australia, Czech Republic, Poland �),3 4 relies on determination of immunoreactive trypsinemia (IRT) and subsequent screening for 30 common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene when IRT is above 65 ug/l. Such programmes require careful attention on mutations to be included in the screening panel.

Willingness to Pay for Genetic Testing: A Study of Attitudes in a Canadian Population (restricted access)

2010-07-05T18:15:07-05:00

This article reports results of a 2008 telephone survey of approximately 1,200 residents of the Province of Alberta, Canada. The goal was to explore attitudes and interest regarding different types of genetic tests. The principal motivator for interest in genetic testing was to learn clinically relevant details to inform health-related decisions. Curiosity about genetic risk had only a modest impact on consumer interest.

Molecular prenatal diagnosis: the impact of modern technologies (restricted access)

F. Lucy Raymond, Joanne Whittaker, Lucy Jenkins, Nick Lench, Lyn S. Chitty — 2010-07-05T18:28:38-05:00

This paper briefly review the history of molecular prenatal diagnostic testing, using Duchenne muscular dystrophy as an example, and describe how over the last 30 years we have moved from offering testing to a few affected individuals using techniques, such as Southern blotting to identify deletions, to more rapid and accurate PCR-based testing which identifies the precise change in dystrophin for a greater number of families. The authors discuss the potential for safer, earlier prenatal genetic diagnosis using cell free fetal DNA in maternal blood before concluding by speculating on how more recent techniques, such as next generation sequencing, might further impact on the potential for molecular prenatal testing.

Silver-Russell syndrome: genetic basis and molecular genetic testing

Thomas Eggermann, Matthias Begemann, Gerhard Binder and Sabrina Spengler — 2010-07-05T18:27:14-05:00

Imprinted genes with a parent-of-origin specific expression are involved in various aspects of growth that are rooted in the prenatal period. Therefore it is predictable that many of the so far known congenital imprinting disorders (IDs) are clinically characterised by growth disturbances. A noteable imprinting disorder is Silver-Russell syndrome (SRS), a congenital disease characterised by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features. However, the clinical spectrum is broad and the clinical diagnosis often subjective. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical SRS features.

Expanded newborn screening: social and ethical issues (restricted access)

Jean-Louis Dhondt — 2010-07-05T18:25:49-05:00

After a period of expansion driven by technological advances, many reports have reconsidered the justification of expanded programs. Many factors have contributed to test-panel discrepancies between countries. Economic aspects cannot be ignored and can be a limitation for expansion. New ethical questions have emerged: risks of discrimination or stigmatization, respect of the autonomy of persons to make decisions, parental anxiety resulting from a false positive test (especially when reporting to parents screening results for untreatable conditions identified as by-products of screening), etc. For disorders where there is not yet confirmation of benefit, it may be prudent to recommend pilot screening and to have a mechanism that can be used to adapt or even to stop a program.

Direct-to-Consumer Genetic Testing - Report of the Secretary�s Advisory Committee on Genetics, Health, and Society

Secretary�s Advisory Committee on Genetics, Health, and Society — 2010-07-05T18:19:52-05:00

In this report, the U.S. Secretary�s Advisory Committee on Genetics, Health, and Society (SACGHS) highlights the importance of minimizing the harms and maximizing the benefits of Direct-to-Consumer (DTC) genetic testing. To this end, consumers need complete, accurate, and balanced information describing the benefits, risks, and limitations of such testing, along with appropriate oversight regulations that are effective and that are enforced.

Declining prevalence of cystic fibrosis since the introduction of newborn screening

John Massie, Lisette Curnow, Lydia Gaffney, John Carlin, Ivan Francis — 2010-07-05T18:32:42-05:00

The aim of this study was to assess the evidence for changes in the live-birth prevalence of cystic fibrosis (CF) since the introduction of newborn screening for CF. The authors observed a modest reduction in the live-birth prevalence of CF since the introduction of newborn screening. This is principally due to at-risk couples detected by newborn screening electing to use prenatal testing on subsequent pregnancies.

Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry

Charles R. Jonassaint, Eunice R. Santos, Crystal M. Glover and al. — 2010-07-05T18:19:37-05:00

Little is known about the lay public�s awareness and attitudes concerning genetic testing and what factors influence their perspectives. The existing literature focuses mainly on ethnic and socioeconomic differences; however, this paper focuses on how awareness and attitudes regarding genetic testing differ by geographical regions in the US. The authors found out that regional differences in awareness and attitudes transcend traditional demographic predictors, such as ethnicity, age and education. Local sociocultural factors, more than ethnicity and socioeconomic status, may influence the public�s awareness and belief systems, particularly with respect to genetics.

Postgenomics, uncertain futures, and the familiarization of susceptibility genes (restricted access)

Gillian Chilibecka, Margaret Lockb and Megha Sehdev — 2010-07-05T18:18:26-05:00

This paper draws on empirical findings from interview studies in the USA and Canada to interrogate the idea that expanding practices of genetic testing are likely to transform kin and family relations in fundamental ways. The authors argue that in connection with common adult onset disorders in which susceptibility genes with low predictive power are implicated it is unlikely that family relationships will be radically altered as a result of learning about either individual or family genotypes. Rather, pre-existing family dynamics and ideas about family susceptibilities for disease may be reinforced. The case of the ApoE gene and its relationship to Alzheimer�s disease is used as an illustrative example. The authors found that �postgenomic� thinking, in which complexity of disease causation is emphasized, is readily apparent in informant narratives.

FDA to Host Public Meeting on Oversight of Laboratory-Developed Tests

2010-07-05T18:14:38-05:00

The U.S. Food and Drug Administration announced plans to hold a public meeting on July 19-20, 2010, to discuss how the agency will oversee laboratory-developed tests (LDTs). It will be held in Hyattsville, Maryland. It will also be webscasted at no charge to participants. During the two-day meeting, an overview of the history and current regulatory status of LDTs will be discussed. The meeting will also be divided into four sessions: Patient Considerations, Challenges for Laboratories, Direct-to-Consumer Marketing of Testing, Education and Outreach.

10th Course in Genetic Counselling in Practice

2010-07-05T18:12:57-05:00

This course will take place September 18 � 22, 2010 in Bologna, Italy. It is designed for professionals working in a genetic counseling setting or considering setting up a new service. It is also appropriate for professionals who need a knowledge of genetic conditions or testing for their work in other specialties, such as midwifery, pediatrics, oncology or neurology. It provides a comprehensive overview of all aspects of genetic counseling for those who are relatively new to the field, but can be as a refresher course for those who are experienced. Clinical genetics, applications and use of genetic testing, counselling skulls and ethical practice are topics covered by the experienced faculty in a friendly learning environment.

DTCGen

2010-07-05T18:11:40-05:00

DTCGen is one of the modules of the HumGen International database (www.humgen.org), and as such, is a document repository of international, national and regional materials regarding the ethical, legal, and social issues pertaining to direct-to-consumer (DTC) genetic testing services. The academic, professional, and governmental publications gathered in the DTCGen module all pertain to the marketing and/or offer of genetic testing services directly to consumers.

Center for Genetics and Society

2010-07-05T18:10:36-05:00

The Center for Genetics and Society is a non-profit information and public affairs organization working to encourage responsible uses and effective societal governance of the new human genetic and reproductive technologies. It has a growing network of scientists, health professionals, civil society leaders, and others. The Center supports benign and beneficent medical applications of the new human genetic and reproductive technologies, and opposes those applications that objectify and commodify human life and threaten to divide human society.