Genetics Journal Club: 2012-2013

A common promoter polymorphism (rs35705950) in MUC5B, the gene encoding mucin 5B, is associated with idiopathic pulmonary fibrosis. It is not known whether this polymorphism is associated with interstitial lung disease in the general population.

Idiopathic pulmonary fibrosis is a syndrome of chronic, progressive fibrosing interstitial pneumonia of unknown cause. The prevalence of this disorder, which is associated with a rate of death similar to that of lung cancer, is increasing. The only consistent clues to its cause have been that it occurs primarily in older adults, many of whom have been smokers.

Op-ed piece on patient with BRCA1 who had prophylactic double mastectomy.

Officials with the national Organ Procurement and Transplantation Network voted in an emergency meeting on Monday to create a new avenue for children seeking lung transplants after two families filed lawsuits challenging the rules.

The American College of Medical Genetics and Genomics (ACMG) recently issued a statement recommending that all laboratories conducting clinical sequencing seek and report pathogenic and expected pathogenic mutations for a short list of carefully chosen genes and conditions. The recommendations establish a baseline for reporting clinically relevant incidental findings and articulate ethical principles relevant to their disclosure. The ACMG acknowledged that the list will evolve over time and is developing a mechanism for community input. This paper focuses on the ethical framework for the recommendations, rather than on the choice of which genes to include on the list.

Exome and whole-genome sequencing are rapidly moving into clinical application to aid diagnosis and treatment. However, a startling statement by the American College of Medical Genetics and Genomics (ACMG) may prove to be a stumbling block . Rather than reconfirming well-established principles of patient autonomy and informed consent that have long applied in medical genetics and in medical practice more broadly, ACMG recommends an abrupt change.