Genetics in medicine : official journal of the American College of Medical Genetics
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Review Historical Article
Comparative effectiveness research and genomic medicine: an evolving partnership for 21st century medicine.
The American Recovery and Reinvestment Act has provided resources for comparative effectiveness research that will lead to evidence-based decisions about health and health care choices. Some have voiced concerns that evidence-based comparative effectiveness research principles are only relevant to "average" patients and not as much to individuals with unique combinations of genes, exposures and disease outcomes, intrinsic to genomic medicine. ⋯ In addition, the success of comparative effectiveness research will depend on developing new methods and clinical research infrastructures to integrate genome-based personalized perspectives into point of care decisions by patients and providers. There is a need to heal the apparent schism between genomic medicine and comparative effectiveness research to enhance knowledge-driven practice of medicine in the 21st century.
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Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. ⋯ Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.
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Newborn dried bloodspot screening: mapping the clinical and public health components and activities.
To define components and activities of the entire Newborn Dried Bloodspot Screening process, highlighting long-term follow-up-both clinical and public health-as a basis for defining requirements for information systems to support the process. ⋯ Successful newborn screening systems rely on effective partnerships to ensure that there is appropriate screening, diagnosis, and follow-up. Coordinating care across multiple settings and service providers, ensuring continuity of care over time, and generating new knowledge about heritable disorders requires information systems that can fully support the process. Developing such information systems requires a clear understanding of the Newborn Dried Bloodspot Screening process and documentation of the roles and responsibilities for all involved. Business process analysis can be applied to Newborn Dried Bloodspot Screening and other child health programs to help achieve that outcome.
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The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found sufficient evidence to recommend offering genetic testing for Lynch syndrome to individuals with newly diagnosed colorectal cancer to reduce morbidity and mortality in relatives. We found insufficient evidence to recommend a specific genetic testing strategy among the several examined. ⋯ CRC is a common disease responsible for an estimated 52,000 deaths in the United States in 2007. In about 3% of newly diagnosed CRC, the underlying cause is a mutation in a MMR gene (Lynch syndrome) that can be reliably identified with existing laboratory tests. Relatives inheriting the mutation have a high (about 45% by age 70) risk of developing CRC. Evidence suggests these relatives will often accept testing and increased surveillance.