Girls may be protected from autistic behavior

A study of twin pairs in the United Kingdom and Sweden recently revealed a female protective effect from autistic impairment, providing an explanation for the well-documented sex differences in autism diagnosis. Given that autistic behavior often runs in families, the authors hypothesized that, if a protective effect exists, siblings of girls with high autistic-behavior scores should carry more risk factors than the siblings of autistic boys. Corresponding author Elise Robinson of Harvard Medical School and an international research team tested their theory in two large independent cohorts of fraternal twins: 3,842 twin pairs in a UK-based twin study and 6,040 twin pairs in a Swedish twin study. After identifying pairs in which one twin scored in the top 10% of autistic impairment, the authors compared the sibling impairment. They found that siblings of girls indeed displayed greater average impairments than the siblings of boys, a finding published 18 February 2013 in the Proceedings of the National Academy of Sciences. The authors concluded that boys require fewer familial risk factors to have an equivalent impairment, a finding that could have implications for the design and interpretation of future autism genetic association studies. —Karyn Hede, News Editor

UK gene review draws ire

A move to review the appropriateness of some genetic testing prior to embryo implantation in the United Kingdom has raised questions about whether improved treatments for genetic diseases should be taken into account when parents request testing. In the United Kingdom, preimplantation genetic diagnosis (PGD) is strictly regulated through the Human Fertilisation Embryology Authority. Since 1991, it has operated as a government-authorized independent regulator that licenses fertility clinics carrying out in vitro fertilization, artificial insemination, and human-embryo research. Now a move to review seven previously approved conditions for which medical treatment is thought to have improved since the conditions were first licensed has ignited debate. In a commentary recently published in the UK-based BioNews, a group of reproductive-medicine experts question whether an attempt to prohibit PGD for inherited disorders implies that it should also no longer be offered in the context of prenatal testing. The authors point out that the potential seriousness of a condition can only be estimated, because many nongenetic factors can influence the severity of an inherited disorder. Clearly, as both genetic diagnosis and therapeutic interventions improve, such decisions will become both medically and ethically trickier. —Karyn Hede, News Editor

Genetics in Medicine | Mission Statement

Genetics in Medicine is a monthly journal committed to the timely publication of:

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