Australian IVF doctor sued for £7m after child born with genetic disorder

An IVF doctor in Australia who was involved in the conception of a child affected by a genetic disorder is being sued for 'wrongful birth'....[Read More]

Reflections on the ethical debate surrounding non-invasive prenatal genetic diagnosis

An up-and-coming technology will soon allow genetic testing of a fetus with a simple maternal blood test early in the first trimester of the pregnancy by isolating cell-free fetal DNA in the mother's plasma. Currently, obtaining reliable diagnostic genetic information requires invasive testing with Chorionic Villus Sampling (CVS) or amniocentesis. Both carry a risk of miscarriage and are performed between weeks 10 and 20 of the pregnancy...[Read More]

Genetic screening by nurses reduces specialist referrals

Using nurses to pre-screen people for genetic risk of cancer, cardiac or endocrine disease before they're sent to specialist services can reduce referrals by up to 75 percent, a preliminary trial has found....[Read More]

Regulating genomic information needs new approaches

People interested in consumer genetics eagerly anticipated the meeting on 8-9 March 2011 of an US Food and Drug Administration (FDA) advisory panel on consumer genetics. The 21-member panel comprised academics, clinicians, a patient organisation member, a company representative, and one consumer...[Read More]

New genetic screening test for rare diseases to be launched in US

A new genetic test screening for almost 450 rare childhood genetic diseases could be available in the US this year, reports the Beyond Batten Disease Foundation (BBDF)....[Read More]

Parental gene carrier testing could soon be available

A new genetic test could lead to the elimination of hundreds of inherited diseases, US scientists claim....[Read More]

Study questions screening for Fragile X Syndrome

Genetic counselling for women and parents undergoing Fragile X syndrome (FXS) screening needs improvement, according to a recent review. The review also called for more studies into the benefits of population-wide screening for FXS...[Read More]

Dialogue around cousin marriage is a positive step, but it must be based on fact not fiction

A report and analysis promoting Baroness Ruth Deech's views on cousin marriage, published in the Times newspaper on Saturday, makes some serious errors and does nothing to either clarify the true health impact of cousin marriage or help couples at risk of recessive genetic conditions...[Read More]

So are we making progress?

The contemporary media is increasingly flooded with stories where the cause, explanation or hope involves genetics. With all the reporting of genetic findings and its 'potential' to improve clinical care - has genetics really led to a marked improvement in our healthcare? And should genetic determinism be the focus of scientific research?...[Read More]

A 'Common Framework of Principles' for direct-to-consumer genetic tests

The UK's Human Genetics Commission (HGC), the Government's advisory body on new developments in human genetics and how they impact on individuals' lives, is seeking views on a 'Common Framework of Principles' for direct-to-consumer genetic tests...[Read More]

Cousin marriages in the UK: what are the genetic risks?

Marriage between relatives such as first cousins increases the risk in children not of general birth defects and genetic problems of all kinds but of what geneticists call 'recessive' conditions: those caused by inheriting two copies of a gene each of which carries a mutation. It seems we may each...[Read More]

Debating deafness and embryo selection: Are we undermining reproductive confidence in the deaf community?

Clause 14 of the Human Fertilisation and Embryology Bill states that in assisted reproduction, embryos known to be at risk of developing 'serious physical or mental disability' or 'serious illness' must not be preferred to embryos where there is no such risk (1). In the official Explanatory Notes to the...[Read More]

The conundrum of cousin marriage

First cousin marriage is a topic that frequently evokes distaste and even a sense of moral outrage in the UK and other western countries. Given its sound Biblical tradition (Leviticus 18:7-18) and long-standing legal acceptance this is somewhat surprising, the more so since many famous figures of the...[Read More]

Direct-to-consumer genetic tests raise concerns

By Katy Sinclair: The recent explosion of genetic tests being marketed to consumers has led to calls for the market to be regulated, and for the clinical utility of the tests available to be validated. The increase in genome association studies has led to the discovery of genetic markers for...[Read More]

Australian parents launch 'wrongful birth' claim for negligent genetic testing

A couple is suing the staff at an IVF clinic in Australia for negligently failing to detect a gene mutation responsible for a type of inherited cancer they had specifically undergone pre-implantation genetic diagnosis (PGD) testing to avoid. The legally unprecedented case could result in one of...[Read More]

Experts warn against commercial genetic tests

Commercial genetic tests, often advertised as capable of predicting an individual's susceptibility to life-threatening diseases, are a 'waste of money' and their results may cause excessive anxiety or falsely assure consumers about whether they are likely to suffer certain medical conditions, warn UK genetics experts. The availability...[Read More]

Genetic testing for Gaucher's disease leads to pregnancy terminations

A study published in the Journal of the American Medical Association shows that couples who were informed following prenatal genetic testing that their fetus had Gaucher's disease were more likely to terminate their pregnancy if they did not then speak to an expert on the condition. Gaucher's...[Read More]

Breast cancer gene test advert sparks criticism

On 10 September the US genetic testing company 'Myriad Genetics' launched an advertising campaign aimed at prompting women who have a family history of breast and/or ovarian cancer to discuss genetic testing options with their doctor. The company owns exclusive rights to the sale of a...[Read More]

Face scans to help diagnose genetic conditions

New software that analyses 3D scans of peoples' faces could speed up the diagnosis of rare genetic conditions, say UK researchers. A team based at the Institute of Child Health in London has collected scans of children with known conditions, as well as unaffected children, creating...[Read More]

The Primary Care Genetics Society: a new initiative

The newly-formed Primary Care Genetics Society (PCGS) has been set up to raise genetic awareness in primary care. It is a non-profit making organisation which welcomes any new members who have an interest in the concept of primary care genetics, and this includes GPs, practice and district nurses, midwives, health...[Read More]