2006 program review book

Public health genomics is a multidisciplinary field that uses the effective and responsible translation of genome-based knowledge and technologies to improve population health. Public health genomics uses population-based data on genetic variation and gene- environment interactions to develop evidence-based tools for improving health and preventing disease. Since 1998, the Office of Genomics and Disease Prevention has been at the leading edge of this development in the United States and internationally. In 2006, CDC changed the name of the office to the \u201cNational Office of Public Health Genomics (NOPHG)\u201d to better reflect the focus on public health. NOPHG provides national public health leadership while building partnerships with other federal agencies, public health organizations, professional groups, and the private sector.Genomics has the potential to provide insights into why some people get sick from certain infectious agents, environmental exposures, and behaviors, while others do not. Better understanding of the gene-environment interactions that contribute to health and disease will help to identify more effective ways to prevent and treat diseases.Most human diseases\u2014especially common diseases, like cancer and diabetes\u2014result from interactions of genetic factors with modifiable environmental and behavioral factors. Very few diseases can be attributed to single genes. Calling a disease genetic implies that no environmental or behavioral interventions exist, and that biology is destiny. Conversely, calling a disease environmental ignores the influence of genetic variation on disease susceptibility, progression, and response to treatment.Both nature and nurture are important. The way genes interact with each other and with environmental factors to cause disease, however, is largely unknown. Clinical and epidemiologic studies are needed to identify and better characterize genetic and environmental factors and their interactions. This new knowledge will lead to more effective ways to prevent disease and improve health.Although public health has used genomics in newborn screening programs since the 1960\u2019s, future genomic applications will require broader program models. While the accelerating rate of genomic discoveries is exciting, immense gaps currently exist in the knowledge needed for successful translation of these discoveries into population health benefits. This translation gap calls for public health leadership in shaping the agenda for applied research, policy development, and practice.Anticipating the potential of genomic research for improving population health, CDC developed a strategic plan and formed the Office of Genetics and Disease Prevention in 1997. The office was renamed the Office of Genomics and Disease Prevention (OGDP) in 2003, and this year, as mentioned, the name was changed to the National Office of Public Health Genomics (NOPHG).Priorities -- Major Accomplishments -- State Examples -- Future Directions -- Publications List -- Optional Materials.2006736

2007 program review

Public health genomics is a multidisciplinary field concerned with the effective and responsible translation of genome-based knowledge and technologies to improve population health. Public health genomics uses population-based data on genetic variation and gene- environment interactions to develop evidence-based tools for improving health and preventing disease.Through the National Office of Public Health Genomics (NOPHG), the Centers for Disease Control and Prevention (CDC) provides national and international leadership in public heath genomics, while building partnerships with other federal agencies, state health departments, public health organizations, professional groups, and the private sector.National Office of Public Health Genomics -- Organization and Staffing -- Strategic Accomplishments in FY2007 -- Scientific Highlights in FY2007 -- NOPHG-Funded State Achievements in FY2007 -- Future Directions -- Publications List.2007736

Efficacy and tolerability of a specific blend of amino acids in patients with anorexia nervosa treated in a hospital setting: study protocol for a randomized controlled trial

BackgroundSpecific blends of essential amino acids (EAA) containing a high percentage of branched-chain amino acids preserves mitochondrial metabolism and higher physical resistance in elderly mice, increasing their survival and improving physical performance and cognitive functions in malnourished elderly patients. However, no study has been yet done on patients with anorexia nervosa (AN) who regain weight with specialized intensive treatment. The present study aims to evaluate the efficacy of supplementation with EAA on the change in lean body mass (LBM) and other physical and psychological outcomes in patients with AN who are undergoing specialist treatment for eating disorders.MethodsThis is a 13-week randomized, double-blind, placebo-controlled study. Patients will be randomized to either a mixture of a complex blend of EAA and intermediates of the tricarboxylic acid (TCA) cycle (citrate, malate, succinate) supplementation (or placebo) upon admission at the intensive residential and day-hospital treatment for eating disorders. Ninety-two participants with AN aged 16-50 years will be recruited from a specialized intensive treatment of eating disorders. Double-blind assessment will be conducted at baseline (T0) and the end of the 13 weeks of treatment (T1). The study's primary aim is to evaluate the efficacy of supplementation with EAA and TCA intermediates on the change in lean body mass (LBM) with weight restoration in patients with AN who are undergoing specialist treatment for eating disorders. The secondary aims of the study are to assess the effect of dietary supplementation on physical fitness, weight restoration, modification of AN and general psychopathology, and psychosocial impairment.DiscussionThe study's results will inform researchers and clinicians on whether supplementing a mixture of EAA and TCA cycle intermediates will improve the increase of LBM and other important physical and psychological outcomes in patients with AN who regain weight with specialized intensive treatment

Status and recommendations of technological and data-driven innovations in cancer care:Focus group study

Background: The status of the data-driven management of cancer care as well as the challenges, opportunities, and recommendations aimed at accelerating the rate of progress in this field are topics of great interest. Two international workshops, one conducted in June 2019 in Cordoba, Spain, and one in October 2019 in Athens, Greece, were organized by four Horizon 2020 (H2020) European Union (EU)-funded projects: BOUNCE, CATCH ITN, DESIREE, and MyPal. The issues covered included patient engagement, knowledge and data-driven decision support systems, patient journey, rehabilitation, personalized diagnosis, trust, assessment of guidelines, and interoperability of information and communication technology (ICT) platforms. A series of recommendations was provided as the complex landscape of data-driven technical innovation in cancer care was portrayed. Objective: This study aims to provide information on the current state of the art of technology and data-driven innovations for the management of cancer care through the work of four EU H2020-funded projects. Methods: Two international workshops on ICT in the management of cancer care were held, and several topics were identified through discussion among the participants. A focus group was formulated after the second workshop, in which the status of technological and data-driven cancer management as well as the challenges, opportunities, and recommendations in this area were collected and analyzed. Results: Technical and data-driven innovations provide promising tools for the management of cancer care. However, several challenges must be successfully addressed, such as patient engagement, interoperability of ICT-based systems, knowledge management, and trust. This paper analyzes these challenges, which can be opportunities for further research and practical implementation and can provide practical recommendations for future work. Conclusions: Technology and data-driven innovations are becoming an integral part of cancer care management. In this process, specific challenges need to be addressed, such as increasing trust and engaging the whole stakeholder ecosystem, to fully benefit from these innovations

Aborder les antécédents familiaux de cancer en soins palliatifs : perspectives des intervenants, des apparentés et analyse des outils de collecte des antécédents familiaux

Cette thèse vise à documenter le point de vue des intervenants en soins palliatifs et celui des apparentés de patients décédés de cancer en soins palliatifs sur le fait d’aborder les antécédents familiaux de cancer en fin de vie. Elle vise également à recenser et à proposer une analyse critique des outils de collecte des antécédents familiaux de cancer afin de déterminer dans quelle mesure ils pourraient être utiles aux cliniciens dans la prise en charge du caractère héréditaire des cancers. Trois études ont été réalisées à cet effet. Premièrement, une enquête menée auprès de 94 intervenants en soins palliatifs a permis de confirmer la tenue en fin de vie de discussions relatives aux antécédents familiaux de cancer entre les intervenants, les patients et leurs apparentés. Les intervenants ont majoritairement jugé de telles discussions pertinentes et faisables. Les facteurs susceptibles, de leur point de vue, de faciliter ces discussions en fin de vie ont été identifiés. Ces facteurs incluent des connaissances sur les cancers héréditaires et les enjeux éthiques et légaux associés, un cadre règlementaire (lignes directrices, protocole) ainsi que de l’information sur les ressources spécialisées en oncogénétique vers qui diriger les patients et les apparentés admissibles. Deuxièmement, dans le cadre d’une étude qualitative (groupes de discussion), 13 apparentés ont partagé leurs expériences et perceptions concernant les discussions portant sur les antécédents familiaux de cancer et la réalisation du test génétique en fin de vie. Ils ont rapporté n’avoir jamais discuté de ces sujets pendant le séjour de leur proche en soins palliatifs. Ils ont exprimé leur préférence pour que les antécédents familiaux de cancer soient abordés avant l'arrivée de leur proche en soins palliatifs ou après le décès de celui-ci. Certains sont quand même restés ouverts à une brève notification, en soins palliatifs, sur le caractère héréditaire éventuel du cancer de leur proche. La grande majorité des apparentés consultés ont jugé approprié de prélever des échantillons biologiques auprès du patient en fin de vie dans le but de réaliser un test génétique. Troisièmement, une revue critique de la littérature a été conduite afin de recenser les outils développés pour la collecte des antécédents familiaux de cancer. Une évaluation de ces outils a été faite en ce qui a trait au soutien qu’ils pourraient apporter aux professionnels de la santé iii dans l'évaluation du risque de cancer et l’orientation appropriée des patients et des familles. Soixante-deux outils ont été identifiés. Ce sont en majorité des questionnaires papier, destinés à être autoadministrés par les patients ou les apparentés. Un tiers de ces outils sont électroniques. Un quart peuvent produire des pedigrees et une évaluation du risque de cancer. Un quart peuvent aussi fournir des recommandations de suivi. Un tiers ont été validés en utilisant une référence standard comme comparateur. Six outils prometteurs se sont distingués par la pluralité de leurs fonctions et leur potentiel d’efficience dans l’identification des personnes susceptibles d’être porteuses de mutations prédisposant au cancer. La prise en compte des résultats de la présente thèse pourrait conduire à l’élaboration et la mise en place de mesures destinées à répondre aux besoins et préoccupations des patients, des apparentés et des intervenants en soins palliatifs concernant le caractère héréditaire des cancers. De telles mesures pourraient ultimement favoriser une considération adéquate du caractère héréditaire des cancers au moment jugé le plus opportun dans la trajectoire de soins par les patients, les apparentés et les intervenants.This thesis aimed to explore the perception of palliative care providers and cancer patients’ relatives regarding addressing cancer family history at the end of life. The objective was also to identify the cancer family history collection tools that have been developed thus far and propose an appraisal of the extent to which they might help health care providers in cancer risk management. Three studies were conducted for this purpose. Firstly, a survey conducted among 94 palliative care providers revealed that cancer family history discussions do occur at the end of life between patients, relatives, and providers. Most palliative care providers considered such discussions relevant and feasible. Facilitating factors for these discussions were identified including knowledge of hereditary cancers, familiarity with ethical and legal related issues, availability of a regulatory framework (guidelines, protocol) as well as information about specialized genetic resources for referring patients and their families. Secondly, in a qualitative study (focus groups), 13 family members shared their experiences and perceptions regarding cancer family history discussions and genetic testing at the end of life. They reported having never discussed cancer heritability during their relative’s stay in palliative care, and related that such discussions would be more appropriate during the curative phase of the disease, or following the death of their affected relative. Some family members were open to brief talks about the hereditary aspect of their relative’s cancer in palliative care. Most surveyed family members considered appropriate to perform genetic testing in palliative care patients. Thirdly, a literature review was conducted to identify tools developed for collecting cancer family history. These tools were appraised in terms of the support that they could bring to health care providers in cancer risk assessment and the appropriate referral of patients and their families to genetics clinics. Sixty-two tools were identified. Generally, most of the tools identified are paper-based questionnaires and designed to be self-completed by patients or relatives. One-third of these tools are electronic. One-quarter can produce pedigrees, provide cancer risk assessment, and issue follow-up recommendations. One-third were validated v against a standard reference. Six multifaceted and potentially efficient tools were deemed promising to identify at-risk individuals eligible for referral to genetic testing. Taking into account the findings of this thesis may ultimately lead to appropriately addressing the needs and concerns of patients, their relatives, and palliative care providers. The strategies developed for such a purpose may foster adequate and timely consideration and management of the hereditary component of cancers during the care pathway

A prospective, double-blind, pilot, randomized, controlled trial of an "embodied" virtual reality intervention for adults with low back pain

Adults with chronic low back pain, disability, moderate-to-severe pain, and high fear of movement and reinjury were recruited into a trial of a novel, automated, digital therapeutics, virtual reality, psychological intervention for pain (DTxP). We conducted a 3-arm, prospective, double-blind, pilot, randomized, controlled trial comparing DTxP with a sham placebo comparator and an open-label standard care. Participants were enrolled for 6 to 8 weeks, after which, the standard care control arm were rerandomized to receive either the DTxP or sham placebo. Forty-two participants completed assessments at baseline, immediately posttreatment (6-8 weeks), 9-week, and 5-month follow-up. We found that participants in the DTxP group reported greater reductions in fear of movement and better global impression of change when compared with sham placebo and standard care post treatment. No other group differences were noted at posttreatment or follow-up. When compared with baseline, participants in the DTxP group reported lower disability at 5-month follow-up, lower pain interference and fear of movement post treatment and follow-up, and lower pain intensity at posttreatment. The sham placebo group also reported lower disability and fear of movement at 5-month follow-up compared with baseline. Standard care did not report any significant changes. There were a number of adverse events, with one participant reporting a serious adverse event in the sham placebo, which was not related to treatment. No substantial changes in medications were noted, and participants in the DTxP group reported positive gaming experiences

Exploration of digital biomarkers in chronic low back pain and Parkinson’s disease

Chronic pain and Parkinson’s disease are illnesses with personal disease progression, symptoms, and the experience of these. The ability to measure and monitor the symptoms by digitally and remotely is still limited. The aim was to study the usability and feasibility of real-world data from wearables, mobile devices, and patients in exploring digital biomarkers in these diseases. The key hypothesis was that this allows us to measure, analyse and detect clinically valid digital signals in movement, heart rate and skin conductance data. The laboratory grade data in chronic pain were collected in an open feasibility study by using a program and built-in sensors in virtual reality devices. The real-world data were collected with a randomized clinical study by clinical assessments, built-in sensors, and two wearables. The laboratory grade dataset in Parkinson’s disease was obtained from Michael J. Fox Foundation. It contained sensor data from three wearables with clinical assessments. The real-world data were collected with a clinical study by clinical assessments, a wearable, and a mobile application. With both diseases the laboratory grade data were first explored, before the real-world data were analyzed. The classification of chronic pain patients with the laboratory grade movement data was possible with a high accuracy. A novel real-world digital signal that correlates with clinical outcomes was found in chronic low back pain patients. A model that was able to detect different movement states was developed with laboratory grade Parkinson’s disease data. A detection of these states followed by the quantification of symptoms was found to be a potential method for the future. The usability of data collection methods in both diseases were found promising. In the future the analyses of movement data in these diseases could be further researched and validated as a movement based digital biomarkers to be used as a surrogate or additional endpoint. Combining the data science with the optimal usability enables the exploitation of digital biomarkers in clinical trials and treatment.Digitaalisten biomarkkereiden tunnistaminen kroonisessä alaselkäkivussa ja Parkinsonin taudissa Krooninen kipu ja Parkinsonin tauti ovat oireiden, oirekokemuksen sekä taudin kehittymisen osalta yksilöllisiä sairauksia. Kyky mitata ja seurata oireita etänä on vielä alkeellista. Väitöskirjassa tutkittiin kaupallisten mobiili- ja älylaitteiden hyödyntämistä digitaalisten biomarkkereiden löytämisessä näissä taudeissa. Pääolettamus oli, että kaupallisten älylaitteiden avulla kyetään tunnistamaan kliinisesti hyödyllisiä digitaalisia signaaleja. Kroonisen kivun laboratorio-tasoinen data kerättiin tätä varten kehitettyä ohjelmistoa sekä kaupallisia antureita käyttäen. Reaaliaikainen kipudata kerättiin erillisen hoito-ohjelmiston tehoa ja turvallisuutta mitanneessa kliinisessä tutkimuksessa sekä kliinisiä arviointeja että anturidataa hyödyntäen. Laboratorio-tasoinena datana Parkinsonin taudissa käytettiin Michael J. Fox Foundationin kolmella eri älylaitteella ja kliinisin arvioinnein kerättyä dataa. Reaaliaikainen data kerättiin käyttäen kliinisia arviointeja, älyranneketta ja mobiilisovellusta. Molempien indikaatioiden kohdalla laboratoriodatalle tehtyä eksploratiivista analyysia hyödynnettiin itse reaaliaikaisen datan analysoinnissa. Kipupotilaiden tunnistaminen laboratorio-tasoisesta liikedatasta oli mahdollista korkealla tarkkuudella. Reaaliaikaisesta liikedatasta löytyi uusi kliinisten arviointien kanssa korreloiva digitaalinen signaali. Parkinsonin taudin datasta kehitettiin uusi liiketyyppien tunnistamiseen tarkoitettu koneoppimis-malli. Sen hyödyntäminen liikedatan liiketyyppien tunnistamisessa ennen varsinaista oireiden mittausta on lupaava menetelmä. Käytettävyys molempien tautien reaaliaikaisissa mittausmenetelmissä havaittiin toimivaksi. Reaaliaikaiseen, kaupallisin laittein kerättävään liikedataan pohjautuvat digitaaliset biomarkkerit ovat lupaava kohde jatkotutkimukselle. Uusien analyysimenetelmien yhdistäminen optimaaliseen käytettävyyteen mahdollistaa tulevaisuudessa digitaalisten biomarkkereiden hyödyntämisen sekä kroonisten tautien kliinisessä tutkimuksessa että itse hoidossa

Improved BRCA Risk Screening Among Women in Primary Care Following Provider Education

Approved May 2017 by the faculty of UMKC in partial fulfillment of the requirements for the degree of Doctor of Nursing PracticeThis project to improve provider screening for breast cancer susceptibility (BRCA) gene mutations was implemented in a primary care clinic in Western Kansas. The purpose of this quality improvement project is to determine if a BRCA gene mutation educational session, discussing Hereditary Breast and Ovarian Cancers (HBOC), screening guidelines and implications of screening, among primary care providers, will increase provider’s knowledge. Before and after the interventional BRCA educational session, the primary outcome, provider BRCA knowledge, was measured by use of a questionnaire titled “Questions for Survey for Birth Care Health Care Clinicians.” With the use of the McNemar Statistical test, paired data was analyzed, but there was no statistically significant change from pre-education questionnaire to post-education questionnaire. A descriptive statistics table illustrates the impact on certain questions with the highest significance of 0.125. This topic is highly impactful because breast cancer is the second deadliest cancer among women, and possessing a mutation on either the BRCA 1 or BRCA 2 genes significantly increases a woman’s risk for cancer in her lifetime. Regular, intermittent screening of women for HBOC syndrome risk, with an evidence-based tool at well-woman visits, should lead to earlier intervention for prevention and early detection of breast cancer and ovarian cancer in women at highest risk