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PubMed2003

Population genetic screening programmes: principles, techniques, practices, and policies.

This paper examines the professional and scientific views on the principles, techniques, practices, and policies that impact on the population genetic screening programmes in Europe. This paper focuses on the issues surrounding potential screening programmes, which require further discussion before their introduction. It aims to increase, among the health-care professions and health policy-makers, awareness of the potential screening programmes as an issue of increasing concern to public health. The methods comprised primarily the review of the existing professional guidelines, regulatory frameworks and other documents related to population genetic screening programmes in Europe. Then, the questions that need debate, in regard to different types of genetic screening before and after birth, were examined. Screening for conditions such as cystic fibrosis, Duchenne muscular dystrophy, familial hypercholesterolemia, fragile X syndrome, hemochromatosis, and cancer susceptibility was discussed. Special issues related to genetic screening were also examined, such as informed consent, family aspects, commercialization, the players on the scene and monitoring genetic screening programmes. Afterwards, these questions were debated by 51 experts from 15 European countries during an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Amsterdam, The Netherlands, 19-20, November, 1999. Arguments for and against starting screening programmes have been put forward. It has been questioned whether genetic screening differs from other types of screening and testing in terms of ethical issues. The general impression on the future of genetic screening is that one wants to 'proceed with caution', with more active impetus from the side of patients' organizations and more reluctance from the policy-makers. The latter try to obviate the potential problems about the abortion and eugenics issues that might be perceived as a greater problem than it is in reality. However, it seems important to maintain a balance between a 'professional duty of care' and 'personal autonomy'.

Ethics↗

PubMed1992

Ethical aspects of genetic screening.

Public and professional concern associated with the idea of genetic screening has generated numerous publications on the ethics of genetic screening (e.g. 1-4). Concerns revolve around inadequate consultation before screening is carried out, the unearthing of worrying risks, the use of genetic information in ways that could be disadvantageous to the person involved, stigma, and a phenomenon known as the 'technological imperative', which means that simply because a technology is available there is a tendency to use it. Most reports agree that, in practice, the main ethical problems are likely to involve screening for risk of common diseases of adult life, because of the possible impact on a person's healthy self-image, implications for health and life insurance, and the possibility of commercial exploitation of people who know themselves to be vulnerable. In this paper I do not propose to address these issues directly. I have been invited to discuss this subject as a clinician involved with genetic screening, counselling and prenatal diagnosis for the haemoglobin disorders, the most common serious human recessively inherited diseases. Since we are scientists, any recommendations we make should be based on experience: my aim is to show that experience is often surprising, and that it is often possible to meet public concerns by taking quite simple practical steps.

Ethics, Medical↗

PubMed2005

Content of communication by pediatric residents after newborn genetic screening.

BACKGROUND: Newborn screening saves lives, but psychosocial complications after genetic screening have led to doubts about expanding programs. Because complications have been blamed on ineffective communication of results, a population-scale system to ensure communication quality may improve outcomes. The objective of this study was to develop and evaluate a method to assess the content of communication after newborn genetic screening. METHODS: We abstracted content data and calculated quantitative scores for 3 communication quality indicators (key content, early placement of good news, and excessive background content) for 59 transcribed conversations between pediatric residents and simulated parents of an "infant" who was found via newborn screening to carry either cystic fibrosis or sickle cell hemoglobinopathy. RESULTS: Only 8.5% of transcripts contained the key content items that were thought to be necessary for parental understanding; 27.1% included reassuring news about carrier status within the first 10% of content. Scores for 3 quality indicators fell in the low performance range in 35.6%, 30.5%, and 27.1% of transcripts, respectively. The most common topic was background about the disease (22% of content statements) even though the infant did not have the disease. Surprisingly, 50% of sickle trait transcripts included counseling about a possible risk for sudden death. CONCLUSIONS: Assessment of the content domain of communication quality identified some high-quality communication interspersed with many missed opportunities. If integrated into newborn screening, our method may help to alleviate some of society's ethical concerns about benefit and risk after newborn and other genetic screening.

Adult↗

PubMed2003

[The prioritisation of genetic screening with primary haemochromatosis as an example].

In 1994, the Health Council of the Netherlands published a report entitled 'Genetic screening' which contained 12 criteria for genetic screening programmes. However, the list does not prioritize the various criteria. From the list we have selected two criteria that we consider to be the most important. Firstly, the genetic screening test should be able to discriminate between subjects who are likely to develop the disease and those who are not. Secondly, there should be an effective treatment for subjects with the genetic defect. From this point of view, for example, screening for the C282Y mutation is not a suitable approach for detecting primary haemochromatosis. Although 85-90% of the patients with this disease are homozygous for this mutation, the majority of the carriers will not develop the disease. The 12 criteria of the Health Council of the Netherlands are still applicable. However, when taking a decision as to whether or not genetic screening is useful, we recommend that priority be given to the two primary criteria.

Diagnosis, Differential↗

PubMed2004

Cascade genetic screening for familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is caused by a mutation in the low-density lipoprotein receptor gene and is characterized by hypercholesterolemia, xanthomas, and premature coronary heart disease. Heterozygotes typically have values for total serum cholesterol in the range of 7-15 mmol/l and efficient lipid-lowering drug therapy is available. However, only approximately 20% of patients are diagnosed and less than 10% are being adequately treated. The most cost-effective strategy to diagnose patients with FH is to screen close relatives of patients already diagnosed with FH. This is referred to as cascade genetic screening. This review focuses on organization of a cascade genetic screening program for FH as well as cost-efficiency assessments, health benefits, possible adverse effects, and the screening of children. The author concludes that cascade genetic screening for FH leads to health benefits and is cost-effective without causing psychological or social damage. Accordingly, national cascade genetic screening programs for FH should be part of ordinary health care.

Cost-Benefit Analysis↗

PubMed1992

Delivery of genetic screening services.

This paper describes the genetic services in the United Kingdom and how the evolution of genetic screening services is taking place. Since these Community Genetic Services depend on the offer of a screening test that affects the whole population, it is essential that the community is given genetic education and an opportunity to discuss the issues before services are initiated. In this way, the differing beliefs and needs of individual communities are appropriately taken into account. The development of screening services for cystic fibrosis will show whether this community-orientated model can be successful.

Community Health Services↗

PubMed2001

Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents.

The aim of this study was to assess attitudes to neonatal genetic screening for hereditary hemochromatosis. A total of 135 consecutive, pregnant women and their partners attending a hospital antenatal clinic in the Australian Capital Territory were given detailed written and verbal information about potential risks and benefits of neonatal genetic screening. Issues such as uncertainty of disease expression, confidentiality, genetic discrimination, and storage of genetic data were addressed. Attitudes were assessed by interview and questionnaire. There was a high level of acceptance for neonatal genetic screening in general (99%) and for hemochromatosis in particular (91.5%). There was no association of prior knowledge of hemochromatosis, family history of hemochromatosis, ethnicity, age, education, or occupation class with nonacceptance. Of the subjects, 39.5% reported feeling "a little anxious" about the prospect of screening their infants, although only 5.4% reported feeling "very anxious." Reasons given for nonacceptance of screening included inability of the child to give informed consent, insufficient evidence that diagnosis of hemochromatosis in childhood is beneficial, risk of discrimination on genetic grounds, lack of agreement between partners, and privacy issues. These data suggest that an Australian neonatal genetic screening program for hemochromatosis is likely to be accepted by this and similar groups of subjects, but there should be an opportunity for parents who object to screening to opt out of any such program.

Adolescent↗

PubMed1978

An economic evaluation of a genetic screening program for Tay-Sachs disease.

The resolution of policy questions relating to medical genetic screening programs will not be without considerable difficulty. Examples include such issues as the optimal degree of screening program expansion, the relative values of screening for different genetic diseases, the appropriate sources of program funding (public vs. private), and the relative value of funding expanded genetic screening programs vs. research directed toward elimination of genetic traits themselves. Information on the net impact of the relevant alternatives is greatly needed, and this need will increase if the National Genetics Act receives funding approval. We have provided what is hopefully a contribution toward this end. While our analysis pertains to a specific disease and a specific screening program for that disease, the methodology is readily generalizable to other genetic diseases, as well as programs of any size or structure. Hopefully, this will serve to stimulate further research efforts that we believe are needed for the objective consideration of resource allocation alternatives.

Cost-Benefit Analysis↗

PubMed2006

Prevalence and predictors of receipt of prenatal information about genetic screening.

OBJECTIVE: To examine the proportion of women who received information on genetic screening among those who had prenatal care and to determine whether the proportion varied by maternal characteristics. METHODS: We used self-reported data from the Pregnancy Risk Assessment Monitoring System (PRAMS), a population-based survey of recent mothers, for birth years 2000-2002. Logistic regression was used to identify independent predictors of receiving information and to calculate adjusted prevalence ratios. RESULTS: Among women who began prenatal care in the first trimester, 86% received information on genetic screening. The strongest predictors of receiving this information were completing the questionnaire in English and having military health insurance. CONCLUSION: Most women receive information on prenatal genetic screening, but insurance status and language preference may impact women's access to this information.

Female↗

PubMed2006

Laser-induced thrombosis in zebrafish larvae: a novel genetic screening method for thrombosis.

Classical genetic approaches to study hemostasis and thrombosis have not been available until our recent introduction of the teleost, Danio rerio (the zebrafish), as an effective genetic model for in vivo coagulation assays. The genetic screen for this model is carried out using the genome saturation mutagenesis approach. The resulting mutants are screened for hemostatic or thrombotic defects. We developed a global physiological screening method for thrombosis by utilizing a laser to induce thrombosis in a specifically targeted area of the major artery and vein. Using this assay, we have screened many fish for abnormal hemostasis, and have isolated a number of mutants with abnormal coagulation parameters. These mutants can be grown, bred, and further evaluated for the genetic etiology of their abnormal hemostatic pathways.

Animals↗

PubMed2006

Genetic screening by DNA technology: a systematic review of health economic evidence.

OBJECTIVES: The Human Genome Project has led to a multitude of new potential screening targets on the level of human DNA. The aim of this systematic review is to critically summarize the evidence from health economic evaluations of genetic screening in the literature. METHODS: Based on an extensive explorative search, an appropriate algorithm for a systematic database search was developed. Twenty-one health economic evaluations were identified and appraised using published quality criteria. RESULTS: Genetic screening for eight conditions has been found to be investigated by health economic evaluation: hereditary breast and ovarian cancer, familial adenomatous polyposis (FAP) colorectal cancer, hereditary nonpolyposis colorectal carcinoma (HNPCC), retinoblastoma, familial hypercholesterolemia, hereditary hemochromatosis, insulin-dependent diabetes mellitus, and cystic fibrosis. Results range from dominated to cost-saving. Population-wide genetic screening may be considered cost-effective with limited quality of evidence only for three conditions. The methodology of the studies was of varying quality. Cost-effectiveness was primarily influenced by mutation prevalence, genetic test costs, mortality risk, effectiveness of treatment, age at screening, and discount rate. CONCLUSIONS: Health economic evidence on genetic screening is limited: Only few conditions have properly been evaluated. Based on the existing evidence, healthcare decision makers should consider the introduction of selective genetic screening for FAP and HNPCC. As genetic test costs are declining, the existing evaluations may warrant updating. Especially in the case of hereditary hemochromatosis, genetic population screening may be about to turn from a dominated to a cost-effective or even cost-saving intervention.

Costs and Cost Analysis↗

PubMed2004

Maternal anxiety associated with newborn genetic screening for type 1 diabetes.

OBJECTIVE: To describe maternal anxiety associated with newborn genetic screening for type 1 diabetes during the first year after risk notification. RESEARCH DESIGN AND METHODS: Mothers of at-risk infants (n = 435), identified through newborn genetic screening as part of the Prospective Assessment of Newborn for Diabetes Autoimmunity (PANDA) study, were administered a short form of the State Trait Anxiety Inventory (STAI) during telephone interviews approximately 3.5 weeks, 4 months, and 1 year after risk notification. Statistical analyses were conducted to examine predictors of maternal anxiety at each interview as well as changes in anxiety over time. RESULTS: For the total sample, initial state STAI scores were not elevated and declined further over time. However, Hispanic mothers, those with low levels of education, those who overestimated the child's risk for diabetes, and mothers of infants in the highest risk group exhibited significantly elevated initial state STAI scores. At 4 months, higher state STAI scores were associated with higher initial state STAI scores, single parent status, having an infant with a first-degree relative with diabetes, and overestimation of the child's actual risk. Initial and 4-month STAI scores remained predictive of STAI scores at 1 year. In addition, single mothers and mothers of female children reported higher STAI state scores 1 year after risk notification. CONCLUSIONS: For most mothers, newborn genetic screening to identify infants at increased risk for type 1 diabetes is not associated with significantly elevated maternal anxiety; anxiety further dissipates over time. However, anxiety levels vary considerably as a function of maternal ethnic status, education, marital status, maternal estimation of infant risk, and sex of the child and may be significantly elevated in some women.

Adult↗

PubMed1984

Employment discrimination implications of genetic screening in the workplace under Title VII and the Rehabilitation Act.

The emergence of genetic screening techniques will permit employers to exclude hypersusceptible individuals from potentially hazardous workplace environments. The denial of employment opportunities to these individuals, however, may constitute discrimination. This Note analyzes genetic screening cases with respect to currently available remedies contained in Title VII of the Civil Rights Act of 1964 and the Rehabilitation Act of 1973. The Note concludes that Title VII claims may succeed but only in limited circumstances and that Rehabilitation Act claims will encounter numerous obstacles to relief. Additionally, the Note discusses some of the implications of the use of genetic screening in the workplace.

Civil Rights↗

PubMed2002

An efficient genetic screen in mammalian cultured cells.

Genetic approaches in mammalian cultured cells had limited success because the isolation of mutants and the identification of the mutated genes were often difficult. In the present report, we describe the establishment of a novel genetic screen in Cos-7 cells that allows rapid identification of polypeptides whose overexpression inhibits a certain cellular process. We demonstrate that this approach can be used successfully to isolate partial cDNAs whose overexpression specifically interfered with the clathrin-mediated endocytosis of transferrin.

Amino Acid Sequence↗

PubMed2004

Supporting patients through genetic screening for cancer risk.

A format for obtaining a genetic family health history is presented, along with a discussion of the importance of psychosocial support surrounding the genetic screening process and the responsibility for the maintenance of the privacy of medical records of patients who elect to undergo genetic screening, are presented.

Female↗

PubMed1997

Genetic screening and the right not to know.

This article discusses the basic elements of genetic screening and monitoring, the Americans With Disabilities Act of 1990, the constitutional issues, and the possibility of government mandated genetic monitoring or screening. The field of genetics offers the promise of unearthing the causes of a wide range of mysterious diseases and potentially finding their cures. Genetic screening and monitoring will play a large role in the application of these new findings. While these technologies offer great promise for the future of medicine, and the eradication of certain genetically linked diseases, until there are cures for persons with the faulty genes, such knowledge can lead to anxious preoccupation with the ever present disease potential within, and discrimination by employers, insurers, governmental agencies, and health care providers without. Given these unpleasant results of genetic screening or monitoring, it is important to assert the individual's right not to know.

Persons with Disabilities↗

PubMed2003

A genetic screen for mouse mutations with defects in serotonin responsiveness.

The serotonergic system plays a key role in regulating basic behaviors. Deficits in serotonergic neurotransmission have been implicated in psychiatric disorders, such as schizophrenia and depression. Here we have optimized a behavioral screen and performed a small scale genetic screen to identify genes involved in serotonin responsiveness in the mouse. Treatment of mice with serotonin, serotonin precursors, or serotonin agonists results in a quantifiable head twitch response (HTR), which is drug dosage-dependent and dependent on the 5-HT2A receptor system. This assay can uncover variation in serotonin responsiveness as shown by our identification of inbred strains with high, medium, and low head twitch responses to administration of the serotonin agonist DOI (+-1-1-(2,5-dimethoxy-4-iodophenyl)-2-aminopropane). We chose C57Bl/6J mice for our mutagenesis screen, because of their robust HTR and because of the availability of their complete genomic sequence. We optimized this assay by examining dose and age dependence of DOI-induced HTR in 6-week and 3-month-old C57BL/6J mice. HTR decreases only slightly in 3-month-old mice, and a substantial but submaximal HTR is induced by 0.75-1 mg/kg of DOI. We assayed HTR in response to DOI of 247 G1 C57BL/6J progeny from C57BL/6J males, which had been mutagenized with ethylnitrososurea (ENU), and recovered one provisionally heritable hyper-responsive mutation. This and future mutations recovered via this protocol may provide ideal subjects for the study of human psychiatric disorders, such as depression and schizophrenia, and thereby aid in the development of better therapeutic strategies for these disorders. Thus, it is well worth expanding on this genetic screen in its current form and by addition of further pharmacologic assays in the future.

Alkylating Agents↗

PubMed1993

'Inside-out', back-to-front: a model for clinical population genetic screening.

Developments in DNA technology have resulted in a dramatic increase in the number of genes identified. With the localisation of a gene it is possible to devise procedures suitable for mass carrier screening programmes. Until recently mass carrier screening was only possible for a limited number of disorders, for example, Tay-Sachs disease and haemoglobinopathies. Counselling possible carriers was based on estimations of risk. The momentum towards mass carrier screening is likely to be increased by gene therapy. Carrier screening for cystic fibrosis alone will have dramatic implications for genetic service provision as 4 to 5% of the UK population carry the CF gene. The potential for genetic screening of multifactorial diseases, for example, cancers, should also be considered. The existing organisation of genetic services is likely to be inadequate. A new specialty of clinical population genetics is required. A model is proposed of clinical population genetic screening programmes, organised under a 'common umbrella' led by a public health physician, while screening and follow up will remain the responsibility of the appropriate clinician.

Female↗