Prenatal screening and genetics.

Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were more precisely observed.

What doctors and patients think about false-negative sentinel lymph nodes in vulvar cancer.

The sentinel lymph node procedure is a relatively new, minimally-invasive method for the assessment of nodal status in malignancies such as breast cancer, cutaneous melanoma and vulvar cancer. Although highly accurate, this new method is inevitably associated with a certain false-negative rate, possibly leading to worse survival in a small subset of patients. The clinical implementation of the sentinel lymph node procedure is therefore a matter of ongoing debate, especially among doctors. The aim of this study was to assess opinions on the acceptable false-negative rate of the sentinel lymph node procedure in patients with vulvar cancer, who in the past had undergone standard routine radical vulvectomy and complete inguinofemoral lymphadenectomy (and frequently experienced complications), and in gynecologists treating patients with vulvar cancer. Structured questionnaires were sent to both patients and gynecologists. The patients had been treated for vulvar cancer between 1985 and 1993, and were all in complete remission with a median follow-up of 118 months (range: 76-185). Questions to the patients dealt with experienced side-effects of the standard treatment and opinion on the acceptable false-negative rate of the sentinel lymph node procedure. The response rate among patients was 91% (106/117). Forty per cent of the patients experienced one or more infections in the legs (cellulitis) and 49% of the patients still experience either severe pain and/or severe lymphedema in the legs. Sixty-six per cent of the patients preferred complete inguinofemoral lymphadenectomy in preference to a 5% false-negative rate of the sentinel lymph node procedure of 5%. Their preference was not related to age or the side-effects they had experienced. The response rate among gynecologists was 80% (80/100), of whom 60% were willing to accept a 5-20% false-negative rate of the sentinel lymph node procedure. While gynecologists may consider the sentinel lymph node procedure to be a promising diagnostic tool, the majority of vulvar cancer patients, who have undergone complete inguinofemoral lymphadenectomy in the past and have frequently experienced complications, would not advise introduction of this technique because they do not want to take any risk of missing a lymph node metastasis.

Psychosocial consequences of screening for albuminuria and certain other risk factors.

OBJECTIVE: To gain insight into the psychosocial consequences of a screening programme on the progression of heart, vascular and kidney damage. DESIGN: Over 85,000 people aged 28-75 were invited to participate in a screening for albuminuria. Nearly half of them sent in their morning urine of which almost 10,000 had a (slightly) elevated urinary albumin level. This latter group was invited to participate in a follow-up screening (24-hour urine samples, blood pressure, glucose, cholesterol) together with ±3,000 randomly selected subjects with a normal urinary albumin concentration. A questionnaire on the psychosocial consequences of the screening was sent to 335 participants of the screening programme each of whom had received their (positive or negative) screening results two weeks previously. RESULTS: The response rate was 75%. A minority of the respondents, diagnosed for risk factors, expressed some concern. No influence on the well-being of this group of participants could be established. Almost one third of the respondents claimed to follow a healthier lifestyle as a result of the screening. There are, however, also indications for a certain 'certificate of health effect': about half of the smokers and the physically inactive considered that the favourable screening results legitimated their unhealthy lifestyle. An unfavourable screening result led to additional medical consumption in almost half of the respondents. The respondents appreciated the screening and especially the less educated had a very positive attitude towards early diagnosis in general. CONCLUSIONS: Those screened positive showed no diminished well-being; their health behaviour improved because of the screening and their medical consumption increased. Many of those screened negative considered the test result a reason to continue their unhealthy lifestyle.

How women deal with the results of serum screening for Down syndrome in the second trimester of pregnancy.

To gain insight into how pregnant women experience serum screening for Down syndrome, we sent questionnaires to two groups of relevant subjects in the north of the Netherlands. The questionnaires addressed the following issues: decision-making process, knowledge and opinions. Questionnaire A was sent to women of 36 years of age and older (n=99) (group A) who were all 20 to 36 weeks pregnant at that time. In the Netherlands prenatal diagnosis is routinely available to these women. Questionnaire B was sent to women of younger than 36 years (n=69) (group B) who had received a screen-positive result and had subsequently undergone amniocentesis. About half of these women were still pregnant at that time. For these women, serum screening is only available on the basis of opting-in. The two questionnaires were largely identical. The response rates to questionnaires A and B were 82% and 91%, respectively. Group A (women of 36 years and older) considered that second trimester serum screening made a welcome contribution to the decision-making process about whether to undergo amniocentesis. Moreover, it reduced the amniocentesis rate considerably. The vast majority said they would apply for serum screening in a following pregnancy, but favoured the idea of first trimester screening. In group B (women of younger than 36 years), reassurance was the most commonly mentioned reason for undergoing serum screening. Almost all the women experienced some degree of anxiety when they were informed about the screen-positive result and 13% continued to be anxious, even after the favourable result of the amniocentesis. The majority of the respondents would also apply for serum screening in a following pregnancy and were of the opinion that this screening should be offered to all pregnant women in the Netherlands.

Quality and cost of healthcare: a cross-national comparison of American and Dutch attitudes.

OBJECTIVE: To compare attitudes of consumers in America and Holland toward the quality and cost of healthcare. STUDY DESIGN: Data were derived from one American (n = 466) and two Dutch (n = 260, n = 1629) surveys. PATIENTS AND METHODS: Questionnaires were completed by respondents. Pairwise comparisons requiring respondents to compare statements with one another were used to assess preferences for quality of care. Respondents were asked to "indicate the extent to which each of the factors listed plays a role in placing demands on the American (Dutch) healthcare system." Factors included the public's tendency to consume, high technology, defensive medicine, decrease in informal care, increase in standard diagnostic procedures, and medicalization. RESULTS: Americans reported comparatively greater concern with empathy, whereas the Dutch were more interested in the continuity of care. Effectiveness, knowledge, information, and patient-physician relationships were ranked higher in both nations than waiting time, autonomy, and efficiency. Respondents in both countries attributed the increase in healthcare cost primarily to the high cost of technology. Compared with their Dutch peers, Americans were less likely to attribute increases in the cost of healthcare to the public tendency to consume and to the decrease in informal care and were more likely to implicate defensive medicine and an increase in diagnostic procedures. CONCLUSIONS: As both nations experience pressures to reduce costs while maintaining and augmenting the quality of healthcare, planners and government officials should tailor their approaches to each nation's problems within the context of their public perspectives. Replication of such studies should help assess the impact of changing societal values on healthcare delivery.

Beliefs concerning death, dying, and hastening death among older, functionally impaired Dutch adults: a one-year longitudinal study.

OBJECTIVES: Population surveys have documented increasing public support for euthanasia and assisted suicide but have not focused on the population of chronically ill older persons, obtained detailed sociocultural or health status information, or performed repeat assessments. This study seeks to describe the views of functionally-impaired Dutch elders on death, dying, and hastened death and to relate these to sociocultural and health status. DESIGN: One-year prospective epidemiologic survey. SETTING AND PARTICIPANTS: Community-dwelling participants in the longitudinal component of the Groningen Longitudinal Aging Study were assessed at home by interview and questionnaire in 1994 (n = 632) and again in 1995 (n = 575). MEASUREMENTS: Independent variables were sociocultural characteristics (eg, age, sex, income, education, religious affiliation, strength of religious belief), physical health status (number of chronic medical conditions, functional impairments), and mental health status (life satisfaction, self-efficacy, anxiety, depression, and neuroticism). Dependent variables were preoccupation with and fear of death, fears of the dying process, and attitudes toward hastened death. RESULTS: Low and stable rates of preoccupation with death and fear of death were found. Occasional but not persistent fears about the dying process were common. Fears of death and dying were most closely related to health status, especially mental health status. Views concerning hastening death were most strongly related to sociocultural variables, especially religious belief and affiliation. There was little change over the 1-year follow-up, with a trend toward less fears of death and dying and less support for hastened death. Significant changes in fears of death and dying and attitudes toward hastened death were not seen even in the 25% of subjects with the greatest deterioration in activities of daily living or greatest increase in anxiety and depression during the 1-year follow-up. CONCLUSION: Beliefs about death, dying, and hastened death are stable over 1-year follow-up. Fears of death and dying are most strongly related to mental health in this community sample. Attitudes about hastening death are primarily related to religious belief and secondarily to mental health. Mental health factors may determine the distress associated with the prospect of death and dying, whereas religion may dictate the actions considered proper when dying.

Women's opinions on the offer and use of maternal serum screening.

We studied the opinions and experiences concerning maternal serum screening of two groups of women: (A) women who were not eligible for prenatal diagnosis; and (B) women for whom prenatal diagnosis was available because of advanced maternal age, and who either underwent chorionic villus sampling or amniocentesis. Many of the women were in favour of the availability of serum screening and would apply for this test in a future pregnancy. This applied also to many respondents who had previously undergone prenatal diagnosis. Most of these women, however, did not intend to decline diagnostic amniocentesis if the screening results did not indicate an increased risk. The majority of the group of respondents of 36 years and over did not consider it acceptable if age indication was dropped altogether. A system based on serum screening will have other implications than a policy based on age indication, since specific individual risk assessment is perceived as being of more significance than a risk statistically derived from age alone. Serum screening is often seen as a means of reassurance and many women are not aware of the possible drawbacks. As technology becomes increasingly complicated, counselling has to be adjusted correspondingly. Further research is needed to establish whether and how distress can be minimized and well-considered individual choice can be achieved.

Liver transplantation: a success in most casesBut what about the less fortunate patients?

Liver transplantation offers the chance of a life-saving intervention for many terminal liver patients. At the present time, the survival rate is high and the quality of survival is good. That does not alter the fact that this technology - like so many others - has a number of unintentioned side-effects. Consideration of these side-effects should be included in a careful evaluation of the technology.As part of a broad evaluation of the Dutch Liver Transplant Programme in Groningen answers were sought to the following questions: (1) With what psycho-social problems are transplanted patients confronted? (2) What does it mean for a patient to be rejected for transplantation? (3) What are the experiences of (the next-of-kin of) patients when the technology fails? The research subjects comprised patients as well as their families. The methods used were interviews and questionnaires.From the results it appears that one-third of the transplanted patients had to deal with serious psychological problems. For rejected patients the decision not to operate was a heavy blow. Most of these nevertheless succeeded in re-establishing an acceptable level of well being, provided they survived for some time. According to one-third of the relatives of patients who died following transplantation, the patients' involvement in the programme hampered the acceptance of their loss; feelings of bitterness were common among them.It is concluded that the negative side-effects of liver transplant technology can never be eliminated completely, but that there are several ways to curtail them. Some of these are briefly discussed.

Experience of bereaved relatives who granted or refused permission for organ donation.

A group of individuals who had granted or refused permission to have organs removed from a decreased relative for transplantation were interviewed. Organ donation was found to be a very delicate subject: the request for organ donation often comes unexpectedly and most relatives are not aware of the wishes of the decreased (donor codicil), which complicates the decision process. Some of the relatives who refused regretted their decision later. Remorse was also encountered in the group who gave their permission, although positive feelings were more common. The position of the member of staff who asks for permission is complicated. Suggestions are presented to improve the procedure.

Women's opinions on the offer and use of prenatal diagnosis.

We have studied the opinions and attitudes of women towards prenatal diagnosis (amniocentesis/chorionic villus sampling/ultrasound/serum AFP testing). A questionnaire was sent to 185 women who had had their first baby a few months before. The respondents have a strong positive attitude towards the diagnostic procedures, especially if treatable abnormalities can be detected. Younger women and women with a high level of education were less inclined to make use of prenatal diagnosis. If tests were made more widely available, this might lead to a significant increase in the use of prenatal diagnosis.

Prenatal diagnosis, prenatal screening, and the rise of the tentative pregnancy.

More and more medical technologies are becoming available for the early detection of congenital abnormalities, such as amniocentesis, chorionic villus sampling, and ultrasound scanning. Recent research has shown that maternal serum can provide a wealth of information on the unborn fetus and that the testing method lends itself to mass screening. Although screening will prevent a great deal of grief, such developments also lead to extreme medicalization of pregnancy. However, owing to the fact that people show a strong desire to avert every possible approaching calamity, the "tentative pregnancy" seems to be unavoidable.

Liver transplantation: the shadow side.

For a relatively large number of patients with liver disease, a liver transplant does not always provide a successful solution. What does confrontation with this modern technology mean for those involved? We interviewed 30 relatives of patients who had died after they had been turned down for a transplant, or during or shortly after a liver transplant operation performed in the Groningen Liver Transplant Programme. Quantitative data were obtained by means of a questionnaire. One-third of the respondents were of the opinion that the patient would have been better off if he/she had not entered the programme. Over half found the loss more difficult to accept because the patient had been involved in the programme. Nevertheless, many had the feeling of satisfaction that everything possible had been done. However fruitful transplantation technology may be for a specific group of patients, it also involves undesirable side-effects which should be included in the careful judgement of this technology.

The imperative character of medical technology and the meaning of "anticipated decision regret".

Medical-technical possibilities are often experienced as being strongly compelling. This imperative character of medical technology not only applies to the medical profession, but also to patients who frequently find it very difficult to refuse medical examinations or treatments. This article discusses the technological imperative with regard to patients. It attempts to discover relationships with decision theory, particularly concerning "anticipated decision regret." The fact that prevention of regret plays an important role in the use of medical technology is illustrated through a number of examples: liver transplantation, prenatal diagnosis, screening, and in vitro fertilization.

Research into quality of life: a qualitative approach in the evaluation of a liver transplant programme.

This article describes and analyses the psycho-social impact of a liver transplant programme. Through in-depth interviews an inventory has been made of experiences of liver patients/their relatives: those who were on the waiting list, those in the green-light phase, patients who were transplanted (with or without success), patients who were turned down. The article is based on qualitative data. This qualitative approach can provide a better understanding of the problems of the liver transplant technology, and in this way it can contribute to the frame of reference of those who draw up the health policy.

The psychosocial impact of mass screening for cardiovascular risk factors.

In Leek, a small town in the north of the Netherlands, 428 men aged between 30-33 years were invited to take part in a screening test for cardiovascular risk factors. Questionnaires were sent to the 267 men who had participated in the screening test as well as to the 161 non-participants, in order to gain an insight into the participatory behaviour and the experience of those involved. The non-participants gave a diversity of motives for not taking part but did not admit to anxiety about finding abnormal results. More than half of the participants who replied (51%, n = 107) were found to have an 'abnormality'--that is they scored on one or more of cigarette smoking, overweight, hypertension, hyperlipoproteinaemia, albuminuna or glucosuria. The supplementary information provided on nutrition and smoking caused a large proportion of them to claim they had changed to a more healthy life-style after the screening test. Those who were under the impression that they had led healthy lives but were still found to have an 'abnormality' were often very astonished and sometimes worried about the result. The men without 'abnormalities' did not lead significantly healthier lives than the rest in terms of exercise, smoking, diet and so on; for them the result might have a 'certificate of health' effect justifying their not always healthy behaviour.

The waiting-list for IVF. The motivations and expectations of women waiting for IVF treatment.

We conducted a written survey of a group of women on the IVF waiting-list at the Dijkzigt Hospital in Rotterdam. The objective of the study was to gain an insight into the motivations and expectations of the women involved. It appeared that the respondents were not very well informed on various aspects of the IVF procedure. They were also too optimistic about the chance that the treatment would be successful in their case. Even if the chance of success was very low (2%) most of the women would still choose IVF. Now that IVF exists the women wish to make use of it. They do not want to run the risk of being sorry later if they let 'the chance of having a child of their own' go by. This 'anticipated decision regret' gives IVF a strongly impelling character. Few women said that they needed a form of social guidance.