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1.  Genomics, personalized medicine, and pediatrics 
Academic pediatrics  2014;14(1):14-22.
doi:10.1016/j.acap.2013.06.008
PMCID: PMC4227880  PMID: 24369865
3.  The Clinical Content of Preconception Care: Genetics and Genomics 
American journal of obstetrics and gynecology  2008;199(6 Suppl 2):S340-S344.
The prevalence of paternal and maternal genetic conditions that affect pregnancy varies according to many factors, including parental age, medical history, and family history. While some genetic conditions that affect pregnancy are easily identified early in life, others are not and may require additional diagnostic testing. A complete three-generation family medical history that includes ethnicity information about both sides of the family is arguably the single best genetic “test” applicable to preconception care. Assessment of genetic risk by an experienced professional has been shown to improve the detection rate of identifiable risk factors. Learning about possible genetic issues in the pre-conception period is ideal, as knowledge permits patients to make informed reproductive decisions. Options available to couples before conception include adoption, surrogacy, use of donor sperm, in vitro fertilization after pre-implantation genetic diagnosis, and avoidance of pregnancy. Future technological advances will increase the choices available to couples.
doi:10.1016/j.ajog.2008.09.870
PMCID: PMC2636723  PMID: 19081428
Family history; genetics; preconception
4.  New Standards and Enhanced Utility for Family Health History Information in the Electronic Health Record: An Update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup 
Family health history is a complex, multifaceted tool for assessing disease risk that can offer insight into the interplay between inherited and social factors relevant to patient care. Family health history tools in electronic health records can enable the user to collect, represent, and interpret structured data that properly supports clinical decisions. If these data can be made interoperable, important health information can be shared with minimal duplication of effort among entities involved in the continuum of patient care. This paper reviews the efforts by the American Health Information Community's Family Health History Multi-Stakeholder Workgroup to create a core data set for family health history information and to determine requirements to promote incorporation of such information in electronic health records. The Workgroup is a component of the U.S. Department of Health and Human Services' Personalized Health Care Initiative.
doi:10.1197/jamia.M2793
PMCID: PMC2585527  PMID: 18755994
5.  Validation of My Family Health Portrait for Six Common Heritable Conditions 
Genetics in Medicine  2010;12(6):370-375.
Purpose
To assess the ability of My Family Health Portrait (MFHP) to accurately collect family history for six common heritable disorders.
Background
Family history is useful to assess disease risk, but is not widely used. We compared the pedigree from MFHP, an online tool for collection of family history, to a pedigree supplemented by a genetics professional.
Methods
150 volunteers collected their family histories using MFHP. A genetic counselor interviewed the volunteers to validate the entries and add diagnoses, as needed. The content and the affection assignments of the pedigrees were compared. The pedigrees were entered into Family Healthware™ to assess risks for the diseases.
Results
The sensitivity of MFHP varied among the 6 diseases (67–100%) compared to the supplemented pedigree. The specificities ranged from 92–100%. When the pedigrees were used to generate risk scores, MFHP yielded identical risks to the supplemented pedigree for 94–99% of the volunteers for diabetes and colon, breast, and ovarian cancer. The agreement was lower for coronary artery disease (68%) and stroke (83%).
Conclusions
These data support the validity of MFHP pedigrees for four common conditions – diabetes and colon, breast, and ovarian cancer. The tool performed less well for coronary artery disease and stroke. We recommend that the tool be improved to better capture information for these two common conditions.
doi:10.1097/GIM.0b013e3181e15bd5
PMCID: PMC3258571  PMID: 20479646
My Family Health Portrait; common disease; family history; risk assessment; pedigree
6.  The Scientific Foundation for Personal Genomics: Recommendations from a National Institutes of Health–Centers for Disease Control and Prevention Multidisciplinary Workshop 
The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.
doi:10.1097/GIM.0b013e3181b13a6c
PMCID: PMC2936269  PMID: 19617843
behavioral sciences; epidemiologic methods; evidence-based medicine; genetics; genetic testing; genomics; medicine; public health
7.  The Genomic Applications in Practice and Prevention Network 
Genetics in Medicine  2009;11(7):488-494.
The authors describe the rationale and initial development of a new collaborative initiative, the Genomic Applications in Practice and Prevention Network. The network convened by the Centers for Disease Control and Prevention and the National Institutes of Health includes multiple stakeholders from academia, government, health care, public health, industry and consumers. The premise of Genomic Applications in Practice and Prevention Network is that there is an unaddressed chasm between gene discoveries and demonstration of their clinical validity and utility. This chasm is due to the lack of readily accessible information about the utility of most genomic applications and the lack of necessary knowledge by consumers and providers to implement what is known. The mission of Genomic Applications in Practice and Prevention Network is to accelerate and streamline the effective integration of validated genomic knowledge into the practice of medicine and public health, by empowering and sponsoring research, evaluating research findings, and disseminating high quality information on candidate genomic applications in practice and prevention. Genomic Applications in Practice and Prevention Network will develop a process that links ongoing collection of information on candidate genomic applications to four crucial domains: (1) knowledge synthesis and dissemination for new and existing technologies, and the identification of knowledge gaps, (2) a robust evidence-based recommendation development process, (3) translation research to evaluate validity, utility and impact in the real world and how to disseminate and implement recommended genomic applications, and (4) programs to enhance practice, education, and surveillance.
PMCID: PMC2743616  PMID: 19471162
decision support; genomics; information; medicine; network; public health

Results 1-7 (7)