Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

Journal of Community Genetics
Kim C A HoltkampPhillis Lakeman

Abstract

A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower than expected. Forty-four tests have been requested, partly by couples with a positive family history for CF, which was not the intended target group. Users were generally positive about the screening offer, citing accessibility, ease of testing, anonymity, and perceived shortcomings of regular healthcare as reasons for requesting screening. DTC CF carrier screening via a university hospital website is feasible, but is seldom used. Considering technological advances, continuation of this specific offer is questionable.

References

Feb 7, 2003·Quality & Safety in Health Care·M E J L HulscherR P T M Grol
Oct 17, 2007·International Journal of Technology Assessment in Health Care·Sean R Tunis, Kalipso Chalkidou
Dec 7, 2007·European Journal of Human Genetics : EJHG·Belinda J McClarenMaryAnne Aitken
Oct 13, 2009·The Journal of Clinical Hypertension·Kate C YoungKarl A Illig
Dec 17, 2009·JAMA : the Journal of the American Medical Association·Carlo CastellaniBaroukh Maurice Assael
Apr 7, 2010·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Carlo CastellaniHarry Cuppens
Mar 3, 2011·Human Reproduction·Pascal BorryHeidi C Howard
Mar 23, 2011·Obstetrics and Gynecology·UNKNOWN American College of Obstetricians and Gynecologists Committee on Genetics
Sep 14, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Liane IoannouMartin B Delatycki
Oct 29, 2014·The Australian & New Zealand Journal of Obstetrics & Gynaecology·John MassieMartin Delatycki
Aug 28, 2015·Genetic Testing and Molecular Biomarkers·Muhammad RafiqStefania Boccia
Mar 17, 2016·European Journal of Human Genetics : EJHG·Lidewij HennemanBorut Peterlin
May 12, 2016·European Journal of Human Genetics : EJHG·Mirjam PlantingaIrene M van Langen
Jan 27, 2017·Prenatal Diagnosis·Saskia TammingaUNKNOWN Dutch NIPT Consortium

❮ Previous
Next ❯

Citations

Nov 28, 2019·Prenatal Diagnosis·Martin B DelatyckiJoël Zlotogora
Jun 23, 2021·European Journal of Human Genetics : EJHG·Ivy van DijkeLidewij Henneman

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

Google Analytics
ti
OneStat
ATLAS

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.