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PubMed1995

Relations between genetic distance of parental pig breeds and heterozygosity of their F1 crosses measured by genetic markers.

The aim of this paper is to examine the extent to which increment of heterozygosity in F1 crosses can be predicted from genetic distance of parental breeds. For this purpose, 38 polymorphic marker loci (blood groups, allotypes, polymorphic proteins and enzymes) were tested in 1115 purebred animals (Duroc, Hampshire and Czech Meat Pig as sire breeds; Landrace, Large White and Black Pied Prestice as dam breeds) and in 1428 crossbred animals of the resulting nine crossbred groups. The number of animals in each genetic group ranged from 75 to 230. On the basis of the allele frequencies of the scored loci, three measures of genetic diversity (heterozygosity, standardized heterozygosity, effective number of alleles) were calculated in all 15 genetic groups. Furthermore, two measures of genetic distance (Nei's standard genetic distance and Gregorius' absolute genetic distance) were calculated between the parental populations. High correlations (Pearson product-moment correlation 0.62 to 0.73; Spearman rank correlation 0.58 to 0.85) were found between the increment of heterozygosity in the crosses (in relation to the mean of the heterozygosities of parental populations) and the genetic distance between the parental populations.

Animals↗
PubMed1998

Genetic discrimination in life insurance: empirical evidence from a cross sectional survey of genetic support groups in the United Kingdom.

OBJECTIVES: To gather empirical evidence on any discrimination based on genetic information shown by the insurance industry in the United Kingdom and to assess how society is likely to handle future genetic information from tests for polygenic multifactorial conditions. DESIGN: Postal questionnaire survey. SUBJECTS: Sample (n=7000) of members from seven British support groups for families with genetic disorders and a representative sample (n=1033) of the general public who answered questions on applying for life insurance as part of an omnibus survey. MAIN OUTCOME MEASURES: Subjects were asked about their experiences with insurers, the medical profession, employers, and social services. Experiences with insurers are reported here. RESULTS: Altogether 33.4% of the study group had problems when applying for life insurance compared with 5% of applicants in the omnibus survey. Thirteen per cent of study respondents from subgroups who represented no adverse actuarial risk on genetic grounds reported that their treatment by insurers seemed to represent unjustified genetic discrimination. CONCLUSIONS: Life insurers may not be operating a consistent policy for assessing genetic information or acting in accord with the actuarial risks brought to them. The inconsistency suggests error rather than a corporate policy of discrimination based on genetic characteristics. Any future proposals for genetic testing for common or multifactorial disorders should be examined carefully.

Age of Onset↗
PubMed2006

Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?

BACKGROUND: Paget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures. Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB. Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential. Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment. METHODS/DESIGN: This study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment? What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment? DISCUSSION: Our research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.

Adult↗
PubMed1999

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.

OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF). PARTICIPANTS: A nonfederal, nonadvocate, 14-member panel representing the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500. EVIDENCE: The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. CONSENSUS PROCESS: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. CONCLUSIONS: Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CF carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested.

Consensus↗
PubMedDate not supplied

[From genetic privacy to the right to genetic data protection. Basic protection of genetic data in Spanish law (regarding SSTC290/2000 and 292/2000, of November 30) (Part I)].

In Rulings 290/2000 and 292/2000, both handed down on 30 November 2000, Spain's Constitutional Court coined, so to speak, a new fundamental right: the right to protection of personal data, which marks the culmination of fundamental legal protection of privacy, private life and personal information. The first part of the article provides a historic and systematic analysis of legislative developments and constitutional case law in these areas, focusing on the right to privacy, so-called informatics freedom and the aforementioned right to protection of personal data.

Genetic Privacy↗
PubMed1976

Analysis of genetic and environmental sources of variation in serum cholesterol in Tecumseh, Michigan. III. Identification of genetic effects using 12 polymorphic genetic blood marker systems.

Four of 12 unlinked polymorphic marker systems were identified as predictors of normal serum cholesterol levels. Consistent effects between males and females and with other studies suggest that these marker loci are themselves involved in cholesterol determination or are closely linked to the involved loci. Two-locus combinations suggest that an 8-9 mg/100 ml difference in nonfasting serum cholesterol may be predicted between phenotypic classes which are not rare in frequency.

Blood Group Antigens↗
PubMed1994

Genetic factors in alcohol use-a genetic epidemiological perspective.

The purpose of this paper is to put a genetic epidemiological perspective on the role of genetic factors involved in the susceptibility and expression of alcohol use. The consequences of familial aggregation in a trait is explained, and the evidence for familial aggregation in alcoholism is viewed critically. Methods for making inference about unmeasured genetic factors from family-based studies of twins, adoptees, etc. are examined. The meaning and limitations of "heritability" are explained. A summary of the literature regarding the possible role of genetic factors on several aspects of alcohol use, including alcohol metabolism, is presented. Some of the evidence for measured genetic factors related to alcoholism and alcohol use is examined. The basic requirements for justifying genetic screening for an adult onset condition, such as alcoholism, are outlined. It is concluded that, although behavioural geneticists have tended to overstate the case for a genetic aetiology, it may only be a matter of time before one or more genetic loci, which in some part determine susceptibility to problem drinking and alcohol abuse, are identified. Genetic screening programmes, however, are unlikely to be justified, especially given the lack of proven prevention strategies.

Journal Article↗