EuroGentest has published a series of 11 patient-information leaflets on genetic disease and genetic testing after a European Union-wide survey identified important omissions regarding risks and psychological implications of genetic testing in the literature disseminated at EU clinics.
EuroGentest is a €10 million ($13.6 million) EU-funded project that aims to standardize the quality of genetic testing among member states. The leaflets are part of an effort to standardize genetic information for patients in the EU and the brochures will be freely available throughout genetic clinics across member states and through patient groups.
The informational brochures, which are currently being translated for EU countries that EuroGentest has identified as having the greatest need, cover topics such as genetic inheritance patterns, chromosomal problems, genetic testing, and visiting with a geneticist. They also include a genetic glossary of terms and a list of frequently asked questions to guide patients and families when discussing genetic testing with a specialist.
Increasing patient and physician literacy of genetic testing is fast becoming a priority in the EU. The leaflets, which can be found in English here, follow the release of the first two guides in EuroGentest’s “Patient Rights in the EU,” a series of reports that extensively covers issues surrounding genetic testing [see PGx Reporter 04-18-07].
EuroGentest said that the impetus for developing the leaflets arose from discussions with patient interest groups and a survey of physicians’ offices, which revealed that handwritten patient letters were not as informative for patients as published brochures on genetic testing.
The handwritten patient letters drafted by genetic specialists ranged from a half page to approximately three pages, and focused mainly on the treatment and management of the genetic disease. According to EuroGentest officials, these handwritten letters included little information about the accuracy and risk of the genetic test itself. The letters were more detailed for common diseases like hereditary breast cancer, but more sparse for rare conditions such as tuberosclerosis, 22Q11 deletion, and connexin 26 alteration.
EuroGentest also conducted a separate survey of genetic specialists in 24 out of the 27 EU countries last year to assess the types of published materials doctors provide at their clinics. The study found agreement among all the surveyed nations that pre-written informational leaflets would be useful.
“Considering that pre-written leaflets were more comprehensive than personal letters, and can be written with the help of patients and families to ensure they discuss all the issues patients believe to be important, we thought it would be a good idea to develop leaflets and make them readily available in genetic clinics across Europe,” Celine Lewis, EuroGentest project officer, told Pharmacogenomics Reporter in an e-mail this week.
EuroGentest’s survey revealed “major differences in the prevailing situations both between and within the seven countries initially surveyed … [and] no country had a comprehensive or standardized approach,” Lewis noted. In some countries, patients received a combination of patient letters and published leaflets during genetic consultation, while in other nations patients received only one form of communiqué.
EuroGentest’s survey revealed “major differences in the prevailing situations both between and within the seven countries initially surveyed … [and] no country had a comprehensive or standardized approach.”
In particular, the survey identified variability in the quality of written information provided in genetic clinics throughout EU nations. The materials reviewed mainly discussed genetic conditions, but 25 percent failed to address the psychological and social implications of genetic testing, and half directed patients to other sources for information and support. Additionally, published literature on genetic testing was available only in some of the clinics EuroGentest surveyed in the seven countries.
Additionally, the available information focused mainly on the benefits of genetic testing, and not the risks. “In order that patients and families can make informed decisions about genetic testing, it is important that all these issues are discussed in the written information provided by the genetic specialist,” Lewis wrote in her e-mail.
The EuroGentest leaflet, “What is a Genetic Test?,” discusses some of the previously unaddressed risks and psychological concerns associated with genetic testing.
“Taking a genetic test, waiting for the results, and then receiving them may cause a range of mixed emotions such as relief, fear, anxiety or guilt. It is important to think through the possible consequences for you and your family if you were to receive either good news or bad news,” the brochure states. “Even though a genetic test may confirm a diagnosis, there may be no intervention or treatment available.”
“Specialists indicated that the topics that would be most useful to them would be: inheritance patterns, chromosome problems, information about what a genetic test is, prenatal testing, and a genetic glossary,” Lewis wrote.
According to EuroGentest’s survey, the greatest need for the leaflets appeared to be in the newer EU states, particularly in Eastern Europe. The leaflets are in the process of being translated into the languages of the most needy countries, including Polish, Romanian, Bulgarian, Slovenian, Slovakian, Czech, Hungarian, Portuguese, and Turkish.
Ultimately, EuroGentest will gauge the impact of its genetic testing leaflets through patient questionnaires and discussions with genetic specialists.
Currently, there are 1,500 genetic testing centers in Europe testing more than 1,000 disease conditions. Standardization of the types of genetic information patients receive in member states is particularly necessary at this time since 30 million people in the EU are suffering from a genetic disease, costing the health sector €500 million each year.