A much needed new journal in the field of Pediatric Genetics.

The fields of Pediatrics and Medical Genetics are closely intertwined, with specialists from both disciplines collaborating to evaluate and manage patients with diverse presentations ranging from birth defects to developmental delays of unknown cause. The need for an open forum for discussion and for manuscripts that integrate and relate to both fields has never been more pressing for the following reasons: Firstly, newer technologies, such as array comparative genomic hybridization for testing for submicroscopic chromosome aberrations and ‘next-generation’ sequencing for genomic mutation detection, are reshaping the landscape of medicine. These technologies enable an astonishing amount of potentially relevant health information to be obtained from a single test, and will increasingly be employed where there are sufficient funds to sustain their use. The investigations, in particular arrays, are often performed in individuals from the pediatric age groups – for example, during the newborn period, when physical differences may be noted, and during the first few years of life, when developmental or behavioral disabilities may be recognized. When genomic testing is performed in the pediatric population, the health information that emerges from the results can have implications that extend across the future lifetime of an individual. However, the results are often more immediately important to those caring for the child. The information returned from the newer genomic tests can range from results that are expected and that confirm well-characterized diagnoses, to results that are completely unanticipated and for which the interpretation remains debatable or uncertain. We still have much to learn regarding the best methodology for the consent process and anticipatory counseling for genomic testing, in addition to the optimal follow up for families who receive information that is currently not interpretable. There is an essential need for Pediatricians and Clinical Geneticists to be familiar with these newer genetic tests, their attendant power and advantages, and the difficulties associated with their use. Secondly, there is a trend towards the individualization of care based on genotype, in particular regarding therapeutic interventions, that has been termed ‘personalized medicine’. For example, the side effects and toxicity from selected drugs can be diminished or avoided by screening for genetic variations that can alter drug metabolism. Such pharmacogenomic testing may be particularly relevant to children, in whom drug selection and dosage can be more hazardous than for adults. Pediatricians and Clinical Geneticists must become increasingly skilled in searching the literature for such advances and accurately translating the newer scientific findings into information that is appropriate for families and other specialists. They must also decide on the most efficacious ‘evidence-based’ management options that can directly aid patients and families. Personalized medicine focuses on the preventative aspects of healthcare, providing information that can inform lifestyle and behaviors to minimize the risks of future disease development. As the groundwork for individual health behavior is often established in childhood, pediatricians have a unique chance to positively influence future health choices by recommending proven interventions that are tailored towards the individual. Finally, the amount of information available concerning the clinical aspects of diseases and syndromes *Address for correspondence: Anne M. Slavotinek, Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, 94143-0748, USA. E-mail: slavotia@peds.ucsf.edu. Journal of Pediatric Genetics 1 (2012) 1–2 DOI 10.3233/PGE-2012-001 IOS Press 1