Screening for Cystic Fibrosis: Ethical and Social Issues

Kerem, Eitan; Lynch, Abbyann

doi:10.1164/ajrccm/143.3.457

Cited by 12 publications

(9 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Carrier screening for cystic fibrosis has been possible for almost 25 years, but before it could be implemented there was a great need to investigate parameters such as: who should be tested, which mutations should be included, when was the right time for testing, did the benefits outweigh the possible harm, who and how would inform and counsel the participants and finally who would cover the cost [31][32][33][34]. Therefore, although carrier screening was technically feasible since F508del was identified as the most common causative mutation, the first pilot screening programs occurred in the early to mid 90s [35,36].…”

Section: Carrier Screening: the Early Years -The First Guidelinesmentioning

confidence: 99%

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Poulou¹,

Tzetis²

2017

obm genet

View full text Add to dashboard Cite

Cystic Fibrosis (CF) is one of the commonest autosomal recessive genetic diseases that show a high carrier frequency amongst Caucasian populations. Although there has been tremendous progress in the available therapies, compared to the past, the disease is still associated with significant morbidity and mortality. Because of the severe clinical manifestations and the shortened life expectancy of patients, population based carrier screening, to identify heterozygous carrier couples at risk of having affected children, has been recommended. We review the history of population based carrier screening for CF, focusing on the screening guidelines, the current requirements and the difficulties of implementation, considering especially the heterogeneity of CF-causing mutations.

show abstract

Section: Carrier Screening: the Early Years -The First Guidelinesmentioning

confidence: 99%

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Poulou¹,

Tzetis²

2017

obm genet

View full text Add to dashboard Cite

show abstract

“…39 HLT is associated with pain and discomfort, and requires immunosuppressive therapy for the rest of the patients life. 45 Based on a patient who underwent a HLT in 1989, annual costs for pancreatic enzymes ($10,236), vitamins ($198), antibiotics and anti-rejection medication ($13,585), amount to $24,011. Based on the post-HLT care protocols of Harefield Hospital, England, we estimate the costs of the weekly Out-Patient visits (OPV) in the initial post-operative year to be $14,776, including $300 for the patients personal spirometer.…”

Section: Heart Lung Transplant (Hl T)mentioning

confidence: 99%

“…Most patients use oral enzyme supplements with every meal in order to decrease bowel movements and improve food digestion. 45 Age-specific pancreatic enzyme (usually Pancrease) utilization rates were multiplied by $0.37 cost per tablet.…”

Section: Antibiotics Mucolitants Vitamins (Excludingmentioning

confidence: 99%

“…Unlike contagious diseases (where undiagnosed individuals may harm others) there is no public health justification for mandatory screening for genetic disease. 45 While there are no compelling financial reasons to screen from a purely economic point of view, neither are there any financial barriers to public funding of a CF screening programme aimed at Ashkenazi Jews, whose net costs will be close to zero. Such a pro-gramme will at no extra cost t o society, increase the freedom of individuals informed reproductive choice.…”

Section: Sensitivity Analysis 11: Ethnic Groupsmentioning

confidence: 99%

See 1 more Smart Citation

Cost‐benefit analysis of a national screening programme for cystic fibrosis in an israeli population

et al. 1994

Self Cite

View full text Add to dashboard Cite

The recently acquired ability to identify 97% of CF carriers in an Israeli Ashkenazi population, prompts an evaluation of a nationwide screening programme. In 1993, the programme would first screen and counsel 9,261 parents, then 396 spouses of carrier parents and finally screen 16.5 fetuses where both parents are carriers. Assuming 92% of screened parents choose abortion of fetus screened positive, 2.33 cases of CF will be prevented in 1993 at a direct cost of $781,000. The $326,000 direct costs of preventing a CF case, exceed the lifetime excess direct costs per case of $297,000. However, benefits of screening also accrue to subsequent pregnancies, resulting in a direct benefit ($14.45 million) to cost ($10.39 million) ratio of 1.39/1 for the period 1993-2032. When benefits and costs resulting from mortality changes, work absences and transport costs are included, the benefit ($15.95 million) to cost ($13.88 million) ratio falls to 1.15/1. Benefit-cost ratios are lower for other ethnic groups in Israel, due to lower carrier rates and lower mutation detection abilities. A CF screening programme will increase the freedom of individuals choice, but should be carried out carefully in order to minimize stigmatization and even discrimination against CF carriers.

show abstract

“…Along with cloning the cystic fibrosis (CF) gene in 1989 (Riordan et al, 1989) came the controversy of whether or not to offer carder screening for CF to the general population and, if it is offered, how to implement it. Professional societies (American Society of Human Genetics, 1992; American College of Obstetrics and Gynecology, 1992) and respected researchers in the field (Biesecker et al, 1992;Kerem and Lynch, 1991;Wilfond and Fost, 1990) have opposed carder screening for individuals with a negative family history of the disease for various reasons, including lack of adequate educational materials to facilitate the genetic counseling process. The limited number of certified genetic counselors available to provide information and counseling (Wilfond and Fost, 1990) is another important consideration.…”

Section: Introductionmentioning

confidence: 99%

A comparison of two approaches to education about carrier testing for cystic fibrosis

Leonard¹,

Bartholomew²,

Swank

et al. 1995

Journal of Genetic Counseling

View full text Add to dashboard Cite

We tested the efficacy of two types of educational materials for genetic counseling: a traditional information brochure and one adding a role model story. Brochures were alternated weekly at a prenatal genetics center. Subjects were asked to read the brochure and fill out a questionnaire covering demographics and variables from the health belief model (impact, barriers, motivation, susceptibility, knowledge, severity). A group of 409 pregnant women and 251 male partners participated. Study design was quasiexperimental, using a post-test only comparison group. The brochure with modeling enhanced the perception of both risk and the severity of the disease and was inversely associated with the assessment of barriers, but did not directly impact on the decision to pursue testing; only 12% chose to be tested, with no significant differences between groups. While suggestive, the study is not confirmatory and should be repeated with a more heterogenous group of women.

show abstract

Screening for Cystic Fibrosis: Ethical and Social Issues

Cited by 12 publications

References 9 publications

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Cost‐benefit analysis of a national screening programme for cystic fibrosis in an israeli population

A comparison of two approaches to education about carrier testing for cystic fibrosis

Contact Info

Product

Resources

About