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Frauke Becker,
Carla G van El,
Dolores Ibarreta,
Eleni Zika,
Stuart Hogarth,
Pascal Borry,
Anne Cambon-Thomsen,
Jean Jacques Cassiman,
Gerry Evers-Kiebooms,
Shirley Hodgson, [......],
Victor B Penchaszadeh,
Andrew Read,
Wolf Rogowski,
Jorge Sequeiros,
Lisbeth Tranebjaerg,
Irene M van Langen,
Helen Wallace,
Ron Zimmern,
Jörg Schmidtke,
Martina C Cornel
European journal of human genetics: EJHG 04/2011; 19 Suppl 1:S6-44. · 3.56 Impact Factor
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Frauke Becker,
Carla G van El,
Dolores Ibarreta,
Eleni Zika,
Stuart Hogarth,
Pascal Borry,
Anne Cambon-Thomsen,
Jean Jacques Cassiman,
Gerry Evers-Kiebooms,
Shirley Hodgson, [......],
Victor B Penchaszadeh,
Andrew Read,
Wolf Rogowski,
Jorge Sequeiros,
Lisbeth Tranebjaerg,
Irene M van Langen,
Helen Wallace,
Ron Zimmern,
J|[ouml]|rg Schmidtke,
Martina C Cornel
European Journal of HumanGenetics 03/2011; · 4.40 Impact Factor
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ABSTRACT: Regarding the recent attention to develop policies regarding the provision of clinical genetic testing services, access to, acceptance, utilisation and regulation of genetic services was investigated in selected European countries as well as one non-European country.
Data were collected on the basis of relevant international reports and sources accessible via the internet, from self- designed, internationally administered surveys and with the help of a panel of experts from European countries participating in several workshops as well as from National European Societies of Human Genetics.
A selection of divergent health care systems was reviewed and compared (e.g. Finland, Germany, Portugal, Sweden, UK, France, Italy, Spain, Czech Republic, Lithuania and Serbia/Montenegro). For the evaluation of clinical validity and utility of genetic testing, background information was provided focussing on DNA-based testing for heritable disorders with a strong genetic component (usually due to the action of a single gene).
There is great heterogeneity in genetic testing services among the countries surveyed. It is premature to mandate that genetic testing provided by clinical services meets professional standards regarding clinical validity and utility, because there is to date no consensus within the scientific community and among health care providers to what extent clinical validity and utility can and need to be assessed. Points to consider in the process of developing such standards are proposed.
Community Genetics 02/2008; 11(2):75-120. · 1.32 Impact Factor
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Anna H Hakonen,
Silja Heiskanen,
Vesa Juvonen,
Ilse Lappalainen,
Petri T Luoma,
Maria Rantamaki,
Gert Van Goethem,
Ann Lofgren,
Peter Hackman,
Anders Paetau,
Seppo Kaakkola,
Kari Majamaa,
Teppo Varilo,
Bjarne Udd, Helena Kaariainen,
Laurence A Bindoff,
Anu Suomalainen
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ABSTRACT: Mutations in the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxia in four patients homozygous for two amino acid changes in POLG: W748S in cis with E1143G. Here, we studied the frequency of this allele and found it to be among the most common genetic causes of inherited ataxia in Finland. We identified 27 patients with mitochondrial recessive ataxia syndrome (MIRAS) from 15 Finnish families, with a carrier frequency in the general population of 1 : 125. Since the mutation pair W748S+E1143G has also been described in European patients, we examined the haplotypes of 13 non-Finnish, European patients with the W748S mutation. Haplotype analysis revealed that all the chromosomes carrying these two changes, in patients from Finland, Norway, the United Kingdom, and Belgium, originate from a common ancient founder. In Finland and Norway, long, common, northern haplotypes, outside the core haplotype, could be identified. Despite having identical homozygous mutations, the Finnish patients with this adult- or juvenile-onset disease had surprisingly heterogeneous phenotypes, albeit with a characteristic set of features, including ataxia, peripheral neuropathy, dysarthria, mild cognitive impairment, involuntary movements, psychiatric symptoms, and epileptic seizures. The high carrier frequency in Finland, the high number of patients in Norway, and the ancient European founder chromosome indicate that this newly identified ataxia should be considered in the first-line differential diagnosis of progressive ataxia syndromes.
The American Journal of Human Genetics 10/2005; 77(3):430-41. · 10.60 Impact Factor
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ABSTRACT: Objective and Methods: We describe the insurance behaviour of subjects (n=271) who had previously taken a predictive genetic test for hereditary non-polyposis colorectal cancer (HNPCC); 31% of them were mutation positive, indicating a high risk of cancer. One year after testing, subjects were sent a questionnaire including questions about their present life and health insurance before participation in the study, and their actual and planned purchase of the insurance policies during the testing programme which compromised a pre-test counseling session, a period for reflection, the testing, and a test disclosure session. Results: Thirty percent reported that they already had a life insurance and 14% a health insurance before participating in the study. The mutation-positive subjects possessed a health insurance significantly more often than the mutation-negative individuals (21 vs. 11%, p=0.02) and similar trend was observed for life insurance (36 vs. 28%, p=0.12). Life and health insurance policies purchased just before testing was reported by 3 and 2% of the subjects, respectively. Life and health insurance policies purchased after testing were reported by 3 and <1% respectively, and planned purchase by 3 and 2%, respectively. No statistically significant differences were found between the groups defined by mutation status in reports of life or health insurance behaviour during or after the programme. Conclusion: According to self-reported data, the mutation-positive subjects did not differ from the others in the purchase of life or health insurance policies. However, the mutation-positive individuals reported that they possessed health insurance policies before entering the study more often than their counterparts.
Community Genetics 02/2001; 4(4):219-24. · 1.32 Impact Factor
