Women's need for information before attending genetic counselling for familial breast or ovarian cancer: a questionnaire,interview, and observational study.

OBJECTIVES: To describe women''s information needs prior to genetic counselling for familial breast or ovarian cancer. DESIGN: Prospective study including semistructured telephone interviews before genetic counselling, observations of consultations, completion of postal questionnaires, and face-to face interviews within two months of counselling. SUBJECTS: 46 women attending genetic counselling for familial breast or ovarian cancer. MAIN OUTCOME MEASURES: Subjects'' understanding of process and content of genetic counselling before attending and attitudes about their preparation for the counselling session. RESULTS: Although all women interviewed before the clinic expected to discuss their risk of developing cancer and risk management options, there was evidence of a lack of knowledge about the process and content of genetic counselling, 17 (37%) women said they did not know what else would happen. Most women interviewed after counselling viewed it positively, but 26 (65%) felt they had been inadequately prepared and 11 (28%) felt that their lack of preparation meant that they could not be given an accurate estimation of their risk of cancer. CONCLUSIONS: Some women felt that they did not obtain optimum benefit from genetic counselling because they were inadequately prepared for it. We suggest that cancer family history clinics should provide women with written information about the process and content of genetic counselling before their clinic attendance.     

Genetic counselling and testing for susceptibility to breast,ovarian and colon cancer: where are we today?

Recent advances in our understanding of the genetic characteristics of cancer will change approaches to genetic screening and counselling. Cancer results from multiple, cumulative mutations in genes that regulate cell replication and differentiation. In familial cancer a germ-line mutation is passed on in an autosomal dominant pattern, but cancer will develop in people who inherit the defect only if other mutations also occur in susceptible somatic cells. The tumour-suppressor gene known as BRCA1 is thought to affect half of those families who have an inherited breast cancer syndrome and most families with a breast and ovarian cancer syndrome. Another gene, BRCA2, is thought to affect most of the remaining families with a breast-cancer-only syndrome. Hereditary nonpolyposis colon cancer (HNPCC) is caused by mutations in surveillance genes that protect DNA from the spontaneous errors that occur during cell division. Because there are no outcome data on which to base practice guidelines for genetic screening or management of asymptomatic carriers in families at risk, testing should be restricted to research settings.     

International Medical Aid

Knowledge of the intricacies of child growth and development and the complexities of family and community dynamics are invaluable for an adequate appraisal of the health needs of the child and for a responsible discharge of professional service. An attempt to incorporate these principles into a medical curriculum is illustrated by a specific method of teaching preventive pediatrics successfully employed over the past five years at the University of British Columbia. First-year students are assigned families and instructed and supervised in observation, examination and interviewing techniques relevant to the normal child. The second-year program is focused on specific individual and family problems of interpersonal relations and elaborates on counselling and other preventive techniques. Research projects are undertaken by the students. By the third year the program is integrated into the tradetional hospital setting, with additive exposure to the functioning of community health and welfare services.     

Human immunodeficiency virus and drug misuse: the Edinburgh experience.

During 1985 many drug abusers who lived in Edinburgh were found to be infected with the human immunodeficiency virus (HIV). As a result an alternative counselling and screening clinic for testing for antibodies to HIV was established for use by drug abusers. Four hundred and forty one patients were counselled in the first year, and over 60% were either drug abusers or their sexual contacts. One hundred and fourteen (26%) patients were positive for HIV antibody, and 100 (88%) of these were current or former drug abusers. The HIV seropositivity rate in drug abusers was 52% but was only 7% in their sexual contacts. Services were provided for these people as well as counselling before and after the test. The cost of this counselling service for the first year was 27,000 pounds or 61.22 pounds per patient. The unexpected mobility of 23% of the Edinburgh drug abusers, particularly to other areas of Britain, suggests that similar services need to be set up elsewhere.     

Ethics and practice: two worlds? The example of genetic counselling

The aim of this paper is to work out the relationship between ethics and practice with reference to genetic counselling. First, the most important principles with respect to genetic counselling and to counsellor-client-interaction, are explained briefly. Then, we discuss what these principles might mean, when applied to the practice of counselling. To do so, we also look at some empirical data. Finally, we draw some conclusions.     

Significance of family photographs for genetic counseling in sex-linked heredity

Authors remember the interest of the old photographs belonging to the families; the authors show how they can help the diagnosis; they can also help to assert the mode of inheritance; in few cases, they can find some female carriers with clinical signs; at last, infrequently, they prove the presence of the disease in a remote generation: so, they prove that the one case is not sporadic but is a familial case; this fact is very important for the genetic counselling of the females of this family. With some cases of the genetic counselling unit of Rennes, authors explain these various situations.     

Active cascade testing for carriers of cystic fibrosis gene.

OBJECTIVE--To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (Cascade screening). DESIGN--Paediatricians and physicians provide details of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interest in the genetics of cystic fibrosis. SETTING--North Western health region. SUBJECTS--Relatives and partners of 607 people with cystic fibrosis. INTERVENTIONS--Genetic counselling by letter for people found to be carriers; formal genetic counselling and when indicated arrangements for prenatal diagnosis for couples discovered to be carriers. MAIN OUTCOME MEASURES--Number of carrier couples detected; action in pregnancy of detected carrier couples; extent of the uptake of screening by relatives. RESULTS--Of 1563 relatives or partners tested, 15 carrier couples were detected; of nine pregnancies undertaken by these 15, eight had prenatal tests and three terminated pregnancies. An average of 16 people per family have come forward for testing so far. CONCLUSIONS--Cascade screening for carriers of cystic fibrosis is well accepted by relatives, especially on the mother''s side of the family; it is 10 times more efficient in detecting carrier couples than unfocused screening. Detected carrier couples make practical use of the information in pregnancy. Active cascade screening for carriers is effective in cystic fibrosis and widespread application is recommended. These principles could be applied to other recessive disorders.     

Genetic counselling for pulmonary arterial hypertension: a matter of variable variability

We report three cases which highlight the complex considerations surrounding genetic counselling for pulmonary arterial hypertension (PAH). The first counselee developed PAH symptoms shortly after his daughter’s death from PAH and was diagnosed with a delay of 1 year. An early diagnosis of familial PAH was established in the second counselee. Oral therapy was initiated immediately, and her functional status has since remained stable. The third counselee was a healthy woman who struggled to cope with her risk for familial PAH, having lost two siblings from the disease. These cases show that incomplete penetrance and variable expression need particular attention during clinical assessment and genetic counselling of heritable PAH patients and family members.     

ARLTS1, MDM2 and RAD51 gene variations are associated with familial breast cancer

Genetic factors that contribute to the risk of breast cancer are largely not known and association studies have revealed several genes with low penetrance risk alleles for breast cancer. Analysis of these genes may provide important information on the risk factors affecting carcinogenesis. Variations in the ARLTS1, RAD51 and MDM2 genes have been associated with increased risk of different cancer types but for breast cancer the results are not consistent. In this study we investigated the role of the allelic variants in candidate genes acting in the tumor suppressor, DNA repair and p53 pathways as risk factors for familial breast cancer in 147 patients displaying characteristics of familial disease. Presence of the polymorphic variants were investigated by amplification of the corresponding regions and restriction fragment length polymorphism analysis. Genotype and allele frequencies in the patients were significantly different for all three variants. Our results indicate that the polymorphic variants might affect individual susceptibility towards breast cancer.     

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q

We identified a case of familial satellited chromosome 4q through a child with cerebellar ataxia and mental retardation. No loss of genetic material could be demonstrated at the molecular level but other possible mechanisms of this association are discussed. We conclude that in these cases genetic counselling should be reassuring.     

Psychological issues in genetic counselling

Summary In the case of prenatal diagnosis and its possible consequences, there is discussion on the limits of freedom of decision. Nevertheless, there is considerable agreement that the individual family should be helped to make its own decisions and to live with these decisions. To attain these goals psychological issues are necessarily of importance. This paper presents concepts on these psychological issues and how they have to be taken into account in counselling. The character of mutuality in providing information is emphasized as well as cognitive and affective processes determining the understanding and outcome of genetic counselling. The role of prior knowledge, expectations, experience, and meaning attached to the disease and its consequences are discussed. Tasks for the counselling staff ranging from preparation for genetic counselling to follow-ups, counselling skills, and methods facilitating the counselling process are specified.     

The Contribution of Germline BRCA1 and BRCA2 Mutations to Familial Ovarian Cancer: No Evidence for Other Ovarian Cancer–Susceptibility Genes

To establish the contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer, we have analyzed both genes in DNA samples obtained from an affected individual in each of 112 families containing at least two cases of epithelial ovarian cancer. Germline mutations were found in 43% of the families; BRCA1 mutations were approximately four times more common than BRCA2 mutations. The extent of family history of ovarian and breast cancers was strongly predictive of BRCA1-mutation status. Segregation analysis suggests that a combination of chance clustering of sporadic cases and insensitivity of mutation detection may account for the remaining families; however, the contribution of other genes cannot be excluded. We discuss the implications for genetic testing and clinical management of familial ovarian cancer arising from the data presented in these studies.     

The geography of genetics: an analysis of referral patterns to a cancer genetics service

This study uses a geographical information system (GIS) and statistical analysis to look for patterns in referrals to a British cancer genetics service. In this case, familial cancers are taken to be those that can develop when an individual inherits DNA mutations that cause an increased risk of cancer. Between 1998 and 2006 the Cancer Genetics Service for Wales received nearly 11,000 referrals for patients resident in Wales and it is the service database recording those referrals which is the subject of this secondary analysis. Using postcodes to match referred patients to areas, deprivation scores were assigned. Referral rates per 10,000 head of population across the 8-year study period by unitary authority are presented, as is information on referrals from primary and secondary care sources by year. Each patient referred has their family history of cancer recorded and is assigned to a risk category; high, medium or average. There are correlations between number of GPs (General Practitioners) in a practice, number of patients referred from a practice, and deprivation as measured by the overall Welsh Index of Multiple Deprivation 2005, such that the two former factors increase as deprivation decreases. Over time there were changes in referral sources, with referrals from primary care overtaking those from secondary care in percentage and absolute terms. There were also changes in the types of cancer referred, risk categories seen and to which centre referrals were made. Referral patterns reveal an inverse relationship between deprivation and health service availability and use.     

Oligodactyly and multiple synostoses of the extremities: Two cases in sibs

Summary Two sibs with a rare phenotype of oligodactyly with metacarpal, carpal, radioulnar, and metatarsal synostoses and shortening of the forearms were born of healthy parents. Genetic counselling with regard to future children of one of these sibs was given on the assumption of an autosomal recessive inheritance, which is highly probable, judging from the other rare familial cases found in the literature.     

Missed opportunities for prevention in general internal medicine

BACKGROUND: According to the Canadian Society of Internal Medicine, the Canadian general internist is in the ideal position to promote patient health through disease prevention. To explore the general internist''s contribution to disease prevention, the authors quantified the extent to which opportunities for prevention were addressed by the general internal medicine (GIM) service in an acute care teaching hospital in Calgary. METHODS: The authors interviewed 100 adult patients before discharge from the hospital''s GIM service between May 14, 1997, and Dec. 2, 1997. The number of potential opportunities for preventive intervention were identified for each patient from 10 possible interventions recommended by the Canadian Task Force on the Periodic Health Examination (now the Canadian Task Force on Preventive Health Care): breast cancer screening, Papanicolaou smear for cervical cancer, counselling on menopausal hormone replacement therapy, digital rectal examination for prostate cancer, smoking cessation counselling, cholesterol measurement, therapy or monitoring for hypertension, influenza vaccination, pneumococcal vaccination and colorectal cancer screening. The authors determined which interventions the patient had undergone before the current admission to hospital and, using patient recall and postdischarge medical chart review, which opportunities for intervention were addressed by the GIM service during the current admission. An opportunity for preventive intervention was considered as addressed by the GIM service if it was performed during the current admission or if the general internist informed the patient or the patient''s family physician of the need for such intervention in the near future. RESULTS: Among the 10 preventive interventions considered, a mean of 3.8 potential opportunities for prevention were identified for each patient. Of these, 46.5% had been addressed before the current admission, and 8.7% were addressed by the GIM service during the admission. Therefore, at the time of discharge, a mean of 55.2% of opportunities had been addressed. Among the opportunities not previously addressed, the GIM service most frequently addressed digital rectal examination for prostate cancer and cholesterol measurement. INTERPRETATION: General internists are discharging patients without sufficiently addressing opportunities for disease prevention. Preventive care protocols may be needed to limit the frequency of missed opportunities for prevention in patients admitted to tertiary care GIM services.     

What Is So Special About a Family Physician?

Around a core of common, acute and chronic, recurrent health problems, a family physician must marshall the traditional episodic management for both inpatient and outpatient illness. He must also be especially adept at recently emerging routines of prevention and early detection. He provides individual and familial psychologic support and counselling, for both its therapeutic and preventive values. In addition, he must relate the individual care of his patient and the patient''s family to the community as a whole. In doing this he will use not only his own skills but those of lay health volunteers, trained allied health care professionals and skilled subspecialists in the limited medical disciplines.The proper preparation of family physicians for this complicated role has far-reaching implications for change in both medical education and medical practice.     

A familial paracentric inversion: A short review of the current status

Summary We present here a familial case of a paracentric inversion in man with a short review of the literature. A paracentric inversion of chromosome 10(q11q26) was found in the amniocytes drawn for advanced maternal age. The presence of the inversion was investigated in 35 family members in three generations. No recombinants were recognized. The significance of these data for appropriate genetic counselling and possible reproductive risks is discussed.Genetic Nurses, Department of Health and Welfare     

Inherited pancreatic cancer: improvements in our understanding of genetics and screening

Inherited pancreatic cancers represent approximately 5-10% of all pancreatic cancers. Pancreatic cancer may be inherited as part of a known cancer syndrome or in association with hereditary pancreatitis or cystic fibrosis. However, most inherited pancreatic cancers do not occur in the context of a known syndrome, and these are referred to as familial pancreatic cancers. Growing evidence suggests the presence of a single autosomal dominant gene in familial pancreatic cancer kindreds, and a susceptibility locus on chromosome 4 has recently been identified in one such family. Pancreatic cancer is believed to arise from pancreatic dysplasia, and familial pancreatic cancer kindreds represent a particularly high-risk population for whom effective screening strategies are needed. One promising strategy has used endoscopic ultrasound to detected pancreatic dysplasia in members of familial pancreatic cancer kindreds.     

Risk, medicine and women: a case study on prenatal genetic counselling in Brazil

Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Brazil, although few medical centres offer this service. Genetic counselling provides prenatal risk control through a process of individual decision-making based on medical information, in a context where diagnostic and therapeutic possibilities overlap. Detection of severe foetal anomalies can lead to a decision involving possible termination of pregnancy. This paper focuses on medical and legal consequences of the detection of severe foetal anomalies, mainly anencephaly and Down syndrome, and in light of the fact that abortion is illegal in Brazil. The discussion is based on the literature and empirical research at a high-complexity public hospital in Rio de Janeiro.