Dataset Information

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

ABSTRACT: With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of [euro ]75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.

SUBMITTER: Plantinga M

PROVIDER: S-EPMC5027688 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

Plantinga Mirjam M Birnie Erwin E Abbott Kristin M KM Sinke Richard J RJ Lucassen Anneke M AM Schuurmans Juliette J Kaplan Seyma S Verkerk Marian A MA Ranchor Adelita V AV van Langen Irene M IM

European journal of human genetics : EJHG 20160511 10

With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases s ...[more]

PMID: 27165008

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Project description:ObjectivesAs key team members caring for people with advanced illness, nurses teach patients and families about managing their illnesses and help them to understand their options. Our objective was to determine if nurses' personal healthcare experience with serious illness and end-of-life (EOL) care differs from the general population as was shown for physicians.DesignObservational propensity-matched cohort study.SettingFee-for-service Medicare.ParticipantsNurses' Health Study (NHS) and a random 20% national sample of Medicare beneficiaries aged 66 years or older with Alzheimer's disease and related dementias (ADRD) or congestive heart failure (CHF) diagnosed in the hospital.MeasurementsCharacteristics of care during the first year after diagnosis and the last 6 months of life (EOL).ResultsAmong 57 660 NHS participants, 7380 had ADRD and 5375 had CHF; 3227 ADRD patients and 2899 CHF patients subsequently died. Care patterns in the first year were similar for NHS participants and the matched national sample: hospitalization rates, emergency visits, and preventable hospitalizations were no different in either disease. Ambulatory visits were slightly higher for NHS participants than the national sample with ADRD (13.1 vs 12.5 visits; P < .01) and with CHF (13.7 vs 12.5; P < .001). Decedents in the NHS and national sample had similar acute care use (hospitalization and emergency visits) in both diseases, but those with ADRD were less likely to use life-prolonging treatments such as mechanical ventilation (10.9% vs 13.5%; P = .001), less likely to die in a hospital with a stay in the intensive care unit (10.4% vs 12.1%; P = .03), and more likely to use hospice (58.9% vs 54.8%; P < .001). CHF at the EOL results were similar.ConclusionsNurses with newly identified serious illness experience similar care as the general Medicare population. However, at EOL, nurses are more likely to choose less aggressive treatments than the patients for whom they care. J Am Geriatr Soc 67:1582-1589, 2019.

Project description:BackgroundThere is low diagnostic accuracy of the proxy restrictive spirometric pattern (RSP) to identify true pulmonary restriction. This knowledge is based on patients referred for spirometry and total lung volume determination by plethysmograpy, single breath nitrogen washout technique or gas dilution and selected controls. There is, however, a lack of data from general populations analyzing whether RSP is a valid proxy for true pulmonary restriction. We have validated RSP in relation to true pulmonary restriction in a general population where we have access to measurements of total lung capacity (TLC) and spirometry.MethodsThe data was from the Swedish CArdioPulmonary bioImage Study (SCAPIS Pilot), a general population-based study, comprising 983 adults aged 50-64. All subjects answered a respiratory questionnaire. Forced expiratory volume in 1?s (FEV1) and forced vital capacity (FVC) were obtained before and after bronchodilation. TLC and residual volume (RV) was recorded using a body plethysmograph. All lung function values are generally expressed as percent predicted (% predicted) or in relation to lower limits of normal (LLN). True pulmonary restriction was defined as TLC?<?LLN5 defined as a Z score?<?-?1.645, i e the fifth percentile. RSP was defined as FEV1/FVC???LLN and FVC?<?LLN after bronchodilation. Specificity, sensitivity, positive and negative likelihood ratios were calculated, and 95% confidence intervals (CIs) were calculated.ResultsThe prevalence of true pulmonary restriction was 5.4%, and the prevalence of RSP was 3.4%. The sensitivity of RSP to identify true pulmonary restriction was 0.34 (0.20-0.46), the corresponding specificity was 0.98 (0.97-0.99), and the positive likelihood ratio was 21.1 (11.3-39.4) and the negative likelihood ratio was 0.67 (0.55-0.81).ConclusionsRSP has low accuracy for identifying true pulmonary restriction. The results support previous observations that RSP is useful for ruling out true pulmonary restriction.

Dataset Information

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

Publications

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

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