Ethical issues in genetic screening for cancer

Genetically-based diseases with a late onset, such as BRCA1-dependent breast cancer or Huntington's disease, can be predicted by the screening of relevant mutations in members of high-risk families. Genetic screening is characterized by a conflict between respect for autonomy – e.g., the right not to know – and responsibility toward future generations (the duty to know for the sake of one's descendants). Other ethical conflicts are related to uncertainty as to benefits deriving from screening for mutations, since for most conditions no clearly effective therapeutical strategy has as yet been defined. In addition to monogenic high-penetrance conditions, polygenic low-penetrance susceptibility is attracting increasing attention, in particular with respect to environmental-genetic interactions (metabolic polymorphisms). A simple approach to genetic screening would be to weigh the benefits and costs of genetic screening against those of primary prevention, and a superficial conclusion might be that genetic screening is less expensive and, overall, more practicable than restriction of toxic exposures or other known risk factors for the disease. Economic advantage notwithstanding, however, giving precedence to screening over primary prevention would be unacceptable. A serious hazard of genetic screening is the implicit limitation of research efforts aimed at primary prevention, and a serious drawback is its potential application for selection of non-susceptible employees. The principle of equity is easily violated by genetic screening of workers in view of the fact that genetically-based metabolic polymorphisms are distributed unevenly among different ethnic groups.     

Povidone-iodine in umbilical cord care interferes with neonatal screening for hypothyroidism

Out of 1346 newborns screened for congenital hypothyroidism, 31 non-hypothyroid infants were summoned because of a thyroid stimulating hormone (TSH) level above 10 U/ml. False-positive TSH levels were significantly more frequent in the babies treated with povidone-iodine (4.6%) than in those treated with either alcohol or triple dye (0.7%).Conclusion Iodine containing solutions should be avoided in umbilical cord care of the newborn     

Diabetic retinal photographic screening: a model for introducing audit and improving general practitioner care of diabetic patients in a rural setting

ABSTRACT: This paper describes the addition of diabetic retinal screening using retinal photography to an existing immunisation audit by a General Practitioner (GP) Network in a semi-rural area 60-min drive from central Wellington, New Zealand. The employment of a nurse-facilitator who visited practices to assist the setting up of diabetic registers and the subsequent auditing of patterns of referral for retinal photography was seen as a first step in a process that would lead to audit of the care of diabetic patients by GPs in the Network. This should lead to a measurable improvement in health-care delivery to diabetic patients in this area and is a model that could be adapted by any group of rural or semirural GPs within a defined geographical area.     

Systematic Differences in Validity of Self-Reported Mammography Behavior: A Problem for Intergroup Comparisons?

Background. Prior studies of recall accuracy for screening mammogram behavior have examined relatively homogeneous groups. Data are limited on possible systematic group differences, so we evaluated women's recall accuracy in two separate care systems in one city.Methods. Women 50 to 70 years old with and without screening mammograms 10 to 14 months prior were identified from fiscal, clinic, and radiology records at a military care system (MCS) and a county-funded system (CFS) for indigents. Mammogram status was verified through radiology records. Women were excluded if mammograms were diagnostic, done for other than annual screening, or had abnormal results. Interview ers blinded to mammogram status surveyed randomly selected eligible women.Results. For 62 screened/31 unscreened MCS women and 78 screened/61 unscreened CFS women, specificity was similar, at 65 and 62%, respectively. In contrast, sensitivity varied significantly: 95% versus 79% (P = 0.011). Primary ethonocultural groups were Euro-American (MCS—60%) and Mexican American (CFS—85%). Although not different in specificity of recall (67% versus 61%), these major subgroups significantly differed in sensitivity (97% versus 80%, P = 0.017), proportion of true negatives due to never having a mammogram (35% versus 57%, P = 0.003), and proportion with ≥high school education (78% versus 19%, P < 0.00001).Conclusion. Systematic differences in recall validity may exist and compromise the accuracy of intergroup comparisons.     

Mammographic Screening Downstages Breast Carcinomas at Time of Diagnosis: A Community-Based Experience

Abstract: To determine the effectiveness of screening mammography in a community medical setting, data from a population-based, retrospective study was analyzed. Medical records of 827 patients with newly diagnosed breast cancer in California between October 1994 and March 1996 were reviewed. The primary care physician's record was abstracted for clinical history, including recommendation of screening mammography. The facility records where final diagnosis was made were abstracted for stage and treatment data. Among the patients who did not have previous screening mammography, 65.7% were diagnosed with "advanced" breast cancer (stages II, III, IV), while only 39.9% who had previous screening mammography were diagnosed with advanced breast cancer (p < 0.001). This study has reaffirmed that screening mammography of adult females generates downstaging at the time of diagnosis of breast cancer. Despite possession of a health insurance program and receiving educational materials, only 65% of patients over 50 years of age had screening mammography. As opposed to the once-a-year mailing of general reminders to all women 40 years old and older, developing a longitudinal electronic medical record in the managed care setting will support a more coordinated and individualized intervention based on age, date of last mammogram, and relative risk, among other factors. Continuing education efforts must also be directed to referring physicians, who may not yet recognize the value of screening mammography.     

Cervical cancer screening in Tamilnadu, India: a feasibility study of training the village health nurse

Uterine cervical cancer is the most common malignancy among females in developing countries, including India. The success of cervical cancer screening programs in North America and Western Europe has been the result of centralized cervical-cytology screening. This is not possible in the villages (n=17,000) of Tamilnadu where 58 percent of females in rural areas are illiterate, health infrastructure is mediocre, and cervical cytology is unknow. The present study was undertaken to examine if the village health nurse (VHN) could be trained quickly to identify a cervical abnormality by visual inspection so that we could down stage the cancer to earlier stages, more amenable to treatment. VHNs also would be trained to take an adequate Pap smear. A total of 101 VHNs were trained in batches and returned to their villages. Within two years, 6,459 engible women in the study area were screened. The agreement between the gynecologists and the VHNs in identifying cancer among those with abnormal cervix was 95 percent, and 80 percent of the Pap smears taken by VHNs were adequate by WHO criteria, making the feasibility study highly successful.Authors are with The Cancer Institute (WIA), Adyar, Madras, Tamil Nadu,India. Address correspondence to Dr Gajalakshmi, Epidemiology Division and Cancer Registry, 18, Sardar Patel Road, Cancer Institute (WIA), Madras-600 036, Tamilnadu, India. This project was funded by the Indian Council of Medical Research, Government of India, New Delhi, India.520 Cancer Causes and Control. Vol 7. 1996     

The characteristics of suicide attempters admitted to the main general hospital in Fiji Islands

Objective: To study the characteristics of suicide attempters attending the main general hospital in Fiji Islands. Method: Consecutive suicide attempters were clinically evaluated, and their sociodemographic and clinical characteristics were compared with those of other patients seen in the psychiatric service between January 15, 1999 and January 14, 2000. Results: Thirty-nine suicide attempters were seen, representing 36.8% of all the cases referred to the psychiatric service. The prevalence of attempted suicide in the Greater Suva Area was 34.8 per 100,000. Majority (56.4%) were young (16–25 years), Indians (59%), female (61.5%), students (41%), never married (74.4%) and of Hindi faith (48.7%). The commonly used methods were ingestion of drugs and pesticides. The intention to die was present in 20 (51.3%) of the population. Social problems and/or psychiatric comorbidity were present in over 60% of cases. Suicide attempters were significantly younger, more of single persons (P<.0001), and fewer were in employment (P<.001) than nonsuicidal cases seen. The difference was not significant when the two groups were compared regarding gender, race or religion. Conclusions: Young people attempt suicide in disturbed psychosocial milieu, using available poisoning methods with strong desire to die. Apparently, high proportion of female Indians in this group reflects high rate of service utilization by them. Unemployment is an insignificant predisposing factor.     

215例正常新生儿瞬态诱发耳声发射测试分析及随访研究

目的：进一步了解正常新生儿瞬态诱发耳声发射（TEOAE）的特征，为新生儿听力筛查提供帮助。方法：采用ILO96型耳声发射仪，对出生后0（出生当天）-8d的215例（425耳）正常新生儿进行TEOAE测试，并跟踪随访结果：TEOAE总检出率为89%，检出率与检测时的天龄有一定的关系。新生儿出生后0-3d检出率平均为72%，4-8d为97%，分娩方式，左右耳，孕龄36至41周间的差异对检出率无明显影响；女性的检出率显著高于男性，快速扫描较TEOAE测试敏感，经随访确诊有1耳听力损害。结论：新生儿听力筛查应在出生后≥4d出院前进行；分娩方式对耳蜗功能无明显影响；人耳蜗毛细胞的成熟是在怀孕36周以前；快速扫描不能代替TEOAE测试；对于1耳或双耳未检出TEOAE的受测者必须跟踪随访和复检，并结合ABR测试尽早确诊。     

畸变产物耳声发射用于新生儿听力筛查的影响因素分析

目的 探讨畸变产物耳声发射(DPOAE)用于新生儿听力筛查的影响因素。方法 采用GSI-70全自动便携式耳声发射仪进行新生儿听力筛查，在筛查同时，自制问卷表，对新生儿的出生史，母亲妊娠史，家族史，父母社会阶层等35个因素进行调查，调查结果运用SPSS统计软件进行统计分析。结果 住院期间82．8％的(3242／3944)新生儿通过筛查，通过率右耳高于左耳，女婴高于男婴，单胎高于多胎，足月儿高于早产儿，正常及高出生体重儿高于低出生体重儿，阴道助产高于自然产、剖宫产，P值均小于0．05。多因素logistic回归分析，出生体重、性别、胎数与初筛结果相关。42天复筛，96．4％(3167／3284)通过筛查，影响初筛结果的因素对复筛无影响。结论 新生儿的性别、分娩方式、胎数、孕周、出生体重对应用DPOAE进行的新生儿听力筛查的初筛结果有显著影响。     

小鼠胚泡着床相关基因的差减筛选

目的:筛选新的小鼠胚泡着床相关基因。方法:对孕4.5 d小鼠着床和非着床位点的子宫内膜组织进行PCR差减。获得了2个新的在小鼠胚泡着床位点高表达的EST(EST8和EST81)。结果:EST8在孕4.5 d小鼠着床位点、肝脏中表达较高,在非着床位点和卵巢中亦有微量表达。EST81主要在孕4.5 d小鼠子宫着床组织和卵巢中表达,其它各种组织中也有微量表达。用PCR方法获得了相应的全长。cDNA,长度分别为1665bp和1364bp。结论:用差减筛选获得的两种cDNA是孕小鼠着床相关基因,其功能有待进一步研究。