Published Articles by Project Partners

Van Overwalle G, van Zimmeren E, Verbeure B, Matthijs G. Models for facilitating access to patents on genetic inventions. Nature Reviews Genetics doi:10.1038/nrg1765

Abstract

The genetics community is increasingly concerned that patents might lead to restricted access to research and health care. We explore various measures designed to render patented genetic inventions accessible to further use in research and to diagnosis and/or treatment. They include the often-recited research or experimental use exemption, conventional one-to-one licensing, compulsory licensing, as well as patent pool and clearing house mechanisms. The last two alternatives deserve special attention in the area of human genetics.

Published online 29 December 2005

Verbeure B., Matthijs G. & Van Overwalle G. Analysing DNA patents in relation with diagnostic genetic testing, European Journal of Human Genetics. Location: European Journal of Human Genetics advance online publication 12 October 2005; doi:10.1038/sj.ejhg.5201503.

Abstract

In the ongoing debate concerning DNA patents, there is a need for empirical data. We aim at creating this data set for DNA patents related to diagnostic genetic testing. To this end we developed two tools to facilitate this process. First, we set up a search strategy to find the relevant patents. Second, we provide a claim classification template to assist the user in the assessment of the subject matter covered by the patent claims and in creating a comprehensive overview of the patent situation within this field. These tools have been used in a pilot study on 11 selected hereditary disorders. In addition, a detailed analysis of the familial breast and ovarian cancer genes patents retrieved by the developed search strategy and their claim classification, after meticulous reading of the documents, allowed us to better describe the problems which medical geneticists and researchers might face when dealing with the patented technology.

Borry P, Fryns JP, Schotsmans P, Dierickx K. Carrier testing in minors: a systematic review of guidelines and position papers. Location: European Journal of Human Genetics advance online publication, 2 November 2005; doi:10.1038/sj.ejhg.5201509.

Abstract

The objective of this article is to review all published normative ethical and clinical guidelines concerning the genetic carrier testing of minors. The databases Medline, Philosopher's Index, Biological Abstracts, Web of Science, and Google Scholar were searched using keywords relating to the carrier testing of children. We also searched the websites of the national bioethics committees indexed on the websites of WHO and the German Reference Center for Ethics in the Life Sciences, the Human Genetics Societies of various nations indexed on the website of the International Federation of Human Genetics Societies and related links, and the national medical associations indexed on the website of the World Medical Association.

We retrieved 14 guidelines emanating from 24 different groups. All guidelines advanced the following preferences:
(1) carrier testing should not be performed in children, and
(2) testing should be deferred until the child can give proper informed consent to be tested.

The guidelines varied in three areas:
(a) the role of genetic services in ensuring that children are informed about their carrier status and associated risks when they are older;
(b) exceptions to the general rule of withholding or deferring carrier testing; and
(c) the communication of incidentally discovered carrier status. In the absence of compelling reasons, carrier testing of a child can reasonably be deferred until the child has the intellectual capacity needed to discern if and when to be tested.

Clinica 17th June 2005
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Macek M. ml., Camajová J., Krenková P., Norambuena P., Goetz P., Macek M., Havlovicová M., Stambergová A. :
Review article about Eurogentest in Czech-Slovak Pediatrics (language czech)
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Menopausal severity factors revealed

Source: Maturitas 2007; 57: 271-8
Identifying factors that predict the severity of menopausal symptoms.
MedWire News: An Ecuadorean survey has revealed several factors that predict the severity of menopausal symptoms. Peter Chedraui and colleagues from the Universidad Católica de Santiago de Guayaquil asked 300 women aged 40 years or more, with intact uterus and ovaries, to fill out the Menopause Rating Scale (MRS) questionnaire. The mean age was 45.1 years, and 40.6 percent of the group was premenopausal, 48 percent perimenopausal, and 11.4 percent postmenopausal. The five most common symptoms on the MRS were muscle and joint problems in 77.0 percent of women, depressive mood in 74.6 percent, sexual problems in 69.6 percent, hot flqashes in 65.5 percent, and sleeping disorders in 45.6 percent. Total and subscale MRS scores significantly increased with age and menopausal stage. Furthermore, women with less education had higher somatic and psychological scores than those who were better educated, with sexually inactive women also having higher urogenital and total scores than those who were sexually active.
Chedraui et al believe that theirs is the first study to validate the Spanish version of the MRS in a Latin-American, healthy, middle-aged population. “Age, the menopause, sexual inactivity, and education level were independent risk factors predicting more severe menopausal symptoms,” they conclude.

Postmenopausal women with metabolic syndrome suffer QoL impairment

Source: Maturitas 2007; 56: 45-53
Evaluating quality of life and factors related to its impairment among postmenopausal women with metabolic syndrome.
Postmenopausal women with metabolic syndrome suffer impaired quality of life (QoL), Ecuadorian researchers reveal. Peter Chedraui, from the Universidad Católica de Santiago de Guayaquil, and team analyzed data from 325 postmenopausal women who participated in a metabolic syndrome screening program. All women were surveyed with the Menopause-Specific Quality of Life Questionnaire. Of the total study cohort, 42 percent of women had metabolic syndrome, 39 percent had hypertension (130/85 mmHg), 17 percent had hyperglycemia (110 milligrams/dl), 57 percent had hypertriglycemia (150 milligrams/dl), and 54 percent had abdominal obesity (waist circumference over 88 cm). The team showed that women with abdominal obesity were more likely than other women to have high vasomotor scores, reflecting a higher prevalence of hot flashes, night sweats, and general sweating.
Moreover, women who were abdominally obese or hypertensive were more likely than other women to report loss of personal life satisfaction, nervousness, memory loss, and depression. Ratings for additional physical impairments, such as flatulence, muscle and joint pains, sleeping disorders, and lack of energy, rose with increasing abdominal obesity.
"In our population, changes in lifestyle and dietary habits should be encouraged... which in turn will improve QoL and decrease further cardiovascular risk," the investigators conclude.

EuroGentest Making Genetic Testing Lab Credentials Publicly Available

Source: GenomeWeb March 18, 2008
NEW YORK (GenomeWeb News) – The European Union is making information about genetic testing labs available to individuals who are taking genetic tests, according to the EU-funded EuroGentest project.
“As genetic testing increases across the EU, it is essential that patients and their families have upmost confidence in the laboratories performing tests,” said Jean-Jacques Cassiman, who is a professor at the Center for Human Genetics and a coordinator for EuroGentest.
The project has collated data on the majority of the more than 1,500 labs involved in member and associated EU states, according to EuroGentest. The group has made that data available and free to access via a new version of Orphanet, a public portal for rare disease information.
The search tool lists the tests that labs perform, accreditation status, staff qualifications, and research interests.
Giving patients the ability to search a particular lab on Orphanet “gives confidence in the validity of the results of genetic tests, and means that families are able to make better, more informed decisions,” said Alastair Kent, who is director of the Genetic Interest Group.
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