Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations.

Medical genetic services for the care and prevention of congenital disorders have received little attention in most middle- and low-income countries to date. In 2010, the World Health Organisation prioritized services for the care and prevention of birth defects in these nations, emphasising their importance in assisting such countries to reach their Millennium Development Goals. Health Needs Assessment is an inclusive, rational, epidemiological-assisted approach for providing information to plan, introduce and beneficially change health care services to improve the health of populations. It is intrinsic to much of the development of health care systems in industrialised nations. Its use by middle- and low-income countries to introduce and develop medical genetic services commensurate with their needs and circumstances would be beneficial. An approach to applying Health Needs Assessment in these circumstances is described.

International variation in physicians' attitudes towards prophylactic mastectomy - comparison between France, Germany, the Netherlands and the United Kingdom.

PURPOSE: Prophylactic mastectomy (PM) has proven to be the most effective method to reduce the risk of breast cancer in high-risk women. The present study aimed to present and compare the attitudes towards PM among physicians in France, Germany, the Netherlands and the United Kingdom (UK). PATIENTS AND METHODS: An international sample of 1196 general practitioners (GPs) and 927 breast surgeons (BS) were surveyed using a mailed questionnaire. RESULTS: Only 30% of the French and 27% of the German GPs were of opinion that PM should be an option for an unaffected female BRCA1/2 mutation carrier, as compared to 85% and 92% of the GPs in the Netherlands and UK, respectively. Similarly, 78% of the French and 66% of the German BS reported a positive attitude towards PM, as compared to 100% and 97% of the BS in the Netherlands and UK, respectively. In the whole sample of GPs, a positive attitude towards PM was associated with country of residence, being female, and having more knowledge of breast/ovarian cancer genetics, while among BS there was a positive association with country of residence and having more knowledge of breast/ovarian cancer genetics as well, and, in addition, with a higher number of newly diagnosed breast cancer patients last year. CONCLUSION: These results demonstrated the international variations in the attitude towards PM among physicians. This might reflect that different policies are adopted to prevent breast cancer in women at-risk.

Familial breast cancer: is it time to move from a reactive to a proactive role?

In 2004 the NICE guidelines on familial breast cancer advised Health Care Professionals that they should not actively seek to identify women with a family history of breast cancer. We have carried out a review of the evidence base and a large scale questionnaire survey of health professionals in four European countries. There is overwhelming support amongst GPs and surgeons against the premise that that health care professionals should not be proactive in identifying patients at risk of familial breast cancer. This that suggest the time is right to overturn the NICE decision.

Genetic screening in Europe.

Genetic screening has been defined as any kind of test performed systematically for the early detection or exclusion of a genetic disease, genetic predisposition or resistance to a disease, or to determine whether a person carries a gene variant that may produce disease in his or her offspring. In comparison to 'genetic testing', the term 'genetic screening' should be reserved for the explicit and systematic application of a diagnostic genetic test across a whole population of asymptomatic people (population screening) or a subset of a population such as pregnant women (prenatal/antenatal screening) or newborn infants (neonatal screening). This survey intends to present the current (2006-2008) status of genetic screening and the organization of genetic screening programmes in selected European countries as a background for future attempts to harmonize standards and procedures of genetic screening, an explicit aim of the European Network of Excellence, EuroGentest (www.eurogentest.org). Our report builds on the first comprehensive assessment of genetic screening programmes in Germany by the European Society of Human Genetics, starting with a workshop of experts in 1999, the production of background documentation in 2000, and a final report in 2003.

Immunomodulating drugs in multiple sclerosis: compliance, satisfaction and adverse effects evaluation in a German multiple sclerosis population.

OBJECTIVE: To assess the compliance, satisfaction and adverse effects of immunomodulating drugs in a German multiple sclerosis (MS) population. RESEARCH DESIGN AND METHODS: A standardised, anonymous questionnaire was sent to the 1985 members with MS of the Berlin section of the German Multiple Sclerosis Association. Patients were questioned with regards to sociodemographic data, MS-related topics, therapy, adverse effects and compliance. The response rate was 51.1%, from which 681 patients were selected who were experienced in therapy with interferon beta 1a or 1b or glatiramer acetate. RESULTS: Most participants were treated with beta-interferons and only one-third with glatiramer acetate. Patients were moderately satisfied with their medication. Approximately 75.5% of patients had used the medication for longer than 2 years, especially those with a relapsing-remitting course (RRMS). Around one-third of all participants had their immunomodulating drug changed, mostly only once. The main reasons for discontinuation of the therapy were adverse effects, physician's recommendation and lack of treatment effect. Mood-related adverse effects (e.g., depression), fever and pain were perceived as most disturbing. Regression analysis revealed that dependence on a wheelchair and a secondary progressive course predicted a low compliance to treatment. CONCLUSION: Treating MS is a challenge and to positively influence the course of the disease it is necessary to administer medication in a constant manner. Our data showed a moderate compliance and satisfaction with the immunomodulating medication. Adverse effects and perceived lack of treatment effect were reasons for discontinuation of therapy. To increase compliance and satisfaction with treatment, adequate information about MS, the therapeutic options, handling of medication, side-effects and their management are necessary. Additionally, realistic therapeutic aims should be discussed with the patients.

The Faces Symbol Test, a newly developed screening instrument to assess cognitive decline related to multiple sclerosis: first results of the Berlin Multi-Centre FST Validation Study.

Reliable, language-independent, short screening instruments to test for cognitive function in patients with multiple sclerosis (MS) remain rare, despite the high number of patients affected by cognitive decline. We developed a new, short screening instrument, the Faces Symbol Test (FST), and compared its diagnostic test characteristics with a composite of the Digit Symbol Substitution Test (DSST) and the Paced Auditory Serial Addition Test (PASAT), in 108 MS patients and 33 healthy controls. An Informant-Report Questionnaire, a Self-Report Questionnaire, and a neurologist's estimation of the Every Day Life Cognitive Status were also applied to the MS patients. The statistical analyses comprised of a receiver operating characteristic analysis for test accuracy and for confounding variables. The PASAT and DSST composite score estimated that 36.5% of the MS patients had cognitive impairment. The FST estimated that 40.7% of the MS patients were cognitively impaired (sensitivity 84%; specificity 85%). The FST, DSST and PASAT results were significantly correlated with the patients' physical impairment, as measured by the Expanded Disability Status Scale (EDSS). The results suggest that the FST might be a culture-free, sensitive, and practical short screening instrument for the detection of cognitive decline in patients with MS, including those in the early stages.

Cancer genetics service provision: a comparison of seven European centres.

OBJECTIVE: To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally. METHODS: A detailed survey questionnaire was adapted collaboratively to obtain the required information. Initial survey data were collected within each centre and interim results were discussed at two European Workshops. Where differences in practice existed, details were clarified to ensure accuracy and adequacy of information. Participating centres were Haifa (Israel), Hannover (Germany), Leiden (The Netherlands), Leuven (Belgium), Manchester (UK), Marseille (France) and Milan (Italy), representing countries with populations ranging from 6.5 to 80 million. RESULTS: The European countries diverged in regard to the number of cancer genetics centres nationally (from 8 in Belgium to 37 in France), and the average population served by each centre (from 0.59 million in Israel to 3.32 million in Italy). All centres offered free care at the point of access, but referral to specialist care varied according to national health care provision. At a centre level, staff roles varied due to differences in training and health care provision. The annual number of counsellees seen in each participating centre ranged from 200 to over 1,700. Access to breast surveillance or bowel screening varied between countries, again reflecting differences in medical care pathways. These countries converged in regard to the wide availability of professional bodies and published guidelines promoting aspects of service provision. Similarities between centres included provision of a multidisciplinary team, with access to psychological support, albeit with varying degrees of integration. All services were dominated (70-90%) by referrals from families with an increased risk of breast cancer despite wide variation in referral patterns. Collection of pedigree data and risk assessment strategies were broadly similar, and centres used comparable genetic testing protocols. Average consultation times ranged between 45 and 90 min. All centres had access to a laboratory offering DNA testing for breast and bowel cancer-predisposing genes, although testing rates varied, reflecting the stage of service development and the type of population. Israel offered the highest number of genetic tests for breast cancer susceptibility because of the existence of specific founder mutations, in part explaining why the cancer genetics service in Haifa differed most from the other six. CONCLUSION: Despite considerable differences in service organisation, there were broad similarities in the provision of cancer genetic services in the centres surveyed.

Problems reported by elderly patients with multiple sclerosis.

Multiple sclerosis (MS) is one of the most common organic neurological diseases of the central nervous system. Because of improved therapies, nurses are confronted with elderly MS patients, but little is known about the specific problems of these patients. This survey analyzed problems in elderly MS patients. Fifty-three MS patients (44 female, 9 male; average age 73 years, average course of MS 25.3 years) from the Berlin Section of the German Multiple Sclerosis Association were evaluated by using a standardized questionnaire, considering social situation, daily problems, disease course, and disabilities, and by using the expanded disability status scale (EDSS). Elderly MS patients reported impaired mobility and inability to use public transportation; about 96% presented EDSS scores above 6.0. Nearly 50% complained about spasticity and pain due to spasticity. More than 70% suffered from bladder dysfunction. Problems with sleep and fatigue were present in less than 20%, but interrupted sleep was common. Selfcare impairments were reported by 50%-75% of the patients, and most of them required professional help. Depressive moods and thoughts about committing suicide were mentioned by more than 30% of the patients. Elderly MS patients experience physical and psychosocial impairments. Healthcare professionals should consider increasing independence and avoiding nursing home admissions in the management of elderly MS patients.

Counselling following the Prenatal Diagnosis of Klinefelter Syndrome: Comparisons between Geneticists and Obstetricians in Five European Countries.

Objective: To describe and compare the information obstetricians and geneticists in five European countries report they would give following the prenatal diagnosis of Klinefelter syndrome. Methods: 388 obstetricians and 269 geneticists from Germany, the Netherlands, Portugal, Spain and the UK completed a brief questionnaire assessing two variables: the information they reported providing to parents following the prenatal diagnosis of Klinefelter syndrome (categorized as positive or negative); and their perceptions of the quality of life with the condition. Results: Geneticists were more likely than obstetricians to report providing more positive than negative information about Klinefelter syndrome than equal amounts of positive and negative information or more negative than positive information about the condition (excess positive information). Regardless of specialty, the information that health professionals reported providing was predicted by their perceptions of the quality of life with the condition, and the country from which they came. Those perceiving quality of life as greater were more likely to provide an excess positive information, as were health professionals from Germany and the UK. Conclusions: These results suggest that the information parents across Europe receive after the prenatal diagnosis of Klinefelter syndrome varies according to the specialty and country of the health professionals consulted, and their perceptions of quality of life with the condition. This variation seems to reflect personal, cultural and professional differences between health professionals. Copyright 2002 S. Karger AG, Basel

Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies.

Over the past 9 years we counseled 55 couples whose unborn child was found to carry a sex chromosome polysomy. We performed a survey of postcounseling parental decisions about continuation or termination of these pregnancies. Of the 55 embryos or fetuses, 23 had the karyotype 47,XXY, 10 had 47,XYY, and 12 had 47,XXX. In addition, there were 10 instances of true mosaicism, i.e. 47,XXY/46,XY (n = 5), 47,XYY/46,XY (n = 2), or 47,XXX/46,XX (n = 3). Mean gestational age (+/-standard deviation) at diagnosis was 18.3+/-3.0 weeks. After comprehensive genetic counseling 48 (87.3%) of these pregnancies were carried to term. In seven cases (12.7%) the parents elected a pregnancy termination. Two of 31 pregnancies (6.5%) primarily ascertained at our center were aborted, whereas amongst the 24 referred cases, 5 couples (20.8%) opted for a termination. The mean gestational age of the terminated pregnancies was 19.7 weeks. The overall termination rate of 12.7% appears low in comparison with literature data. Most reports from other institutions present termination rates between 32 and 66%. The reason for the low rate of induced abortions in our study cohort is not clear. Cultural differences in parental perception of sex chromosomal polysomies may be of importance, and peculiarities of genetic counseling at our institution could also play a role. Although counseling was nondirective, we did put emphasis on providing prospective parents with information from unbiased follow-up studies of children with Klinefelter syndrome and other sex chromosome polysomies.

Counselling following diagnosis of fetal abnormality: a comparison between German, Portuguese and UK geneticists.

The principle of non-directiveness in genetic counselling is embraced by all relevant professional bodies. Little is known about the extent to which it is endorsed by geneticists, or incorporated into their clinical practice. The aim of the current study is to document how geneticists in three European countries, Germany, Portugal and the UK, report counselling women at risk for having children with a range of conditions. While geneticists in all three countries reported counselling in a largely non-directive style, this varied both across genetic conditions and between countries. German and Portuguese geneticists were significantly more directive than UK geneticists, although they differed in the way in which they were directive. German geneticists were more likely to encourage continuation of pregnancies, while Portuguese geneticists were more likely to encourage termination of affected pregnancies. There was no strong consensus on approaches to counselling for any of the genetic conditions, defined as agreement between 70% of all three groups of geneticists. Despite strong professional codes of non-directiveness, geneticists report being somewhat directive in some counselling situations. Future research needs to focus on what geneticists are trying to achieve in genetic counselling, how they actually counsel, and with what effects.

Immediate and long-term applications of technology.

PIP: The study of human genetics and developments therein have truly made great strides in recent years. The tendency to immediately introduce new technology into medical practice, however, suggests the urgent need to consider the ethics of our recently developed and developing technological prowess, as well as the long- and short-term impacts of these changes. The authors therefore review and consider published field experiences specifically related to prenatal diagnosis. Noninvasive screening tests during pregnancy, the isolation of fetal cells from maternal circulation for prenatal diagnosis, amniocentesis, and molecular genetic techniques which analyze DNA are considered. In response to the increasing number of prospective parents who want to have a prenatal assessment of normal fetal well-being, voluntary ultrasound screening programs have developed. New available techniques make the diagnosis of fetal maldevelopments more frequent and more precise. The practice seems safe within the limits of current practice. As for the isolation of fetal cells from maternal circulation for prenatal diagnosis, large clinical pilot trials are needed to especially determine the method's sensitivity and specificity for use in either screening or diagnosis. This approach should be under tight control to avoid potential misuse.^ieng