Kirsten F. L. Douma

Methodology of constructive technology assessment in health care

OBJECTIVES Technologies in health care are evolving quickly, with new findings in the area of biotechnological and genetic research being published regularly. A health technology assessment (HTA) is often used to answer the question of whether the new technology should be implemented into clinical practice. International evidence confirms that the results of HTA research sometimes have limited impact on practical implementation and on coverage decisions; the study design is commonly based on the paradigm of stability of both the technology and the environment, which is often not the case. Constructive technology assessment (CTA) was first described in the 1980s. In addition to the traditional HTA elements, this approach also takes into account the technology dynamics by emphasizing sociodynamic processes. With a CTA approach, comprehensive assessment can be combined with an intentional influence in a favorable direction to improve quality. METHODS In this study, the methodological aspects mainly concerning the diagnostic use of CTA are explained. The methodology will be illustrated using the controlled introduction of a new technology, called microarray analysis, into the clinical practice of breast cancer treatment as a case study. Attention is paid to the operationalization of the phases of development and implementation and the research methods most appropriate for CTA. CONCLUSIONS In addition to HTA, CTA can be used as a complementary approach, especially in technologies that are introduced in an early stage of development in a controlled way.

Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature

Objectives: Familial adenomatous polyposis (FAP) is characterized by the development of multiple adenomas in the colon that can lead to colorectal cancer. Being a carrier for FAP is hypothesized to have a negative impact on psychosocial well‐being. This paper reviews the current literature on the psychosocial aspects of FAP.

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA testing, PND and PGD among members of families at high risk for FAP. In this nationwide, cross-sectional study, questionnaires were sent to individuals from families at high risk for FAP assessing attitudes toward and experiences with childhood testing, PND and PGD, as well as several sociodemographic, clinical and psychosocial variables. Of the individuals from FAP families invited to participate in the study, 525 members participated (response rate=64%). Most parents who had children who were minors (n=93) (82%) were satisfied with the DNA testing procedure. One-third of all individuals wanted DNA testing for their children before age 12. Forty percent of FAP patients indicated that the disease influenced their desire to have children. Only 15% considered termination of pregnancy for FAP acceptable. Approximately 30% of individuals with a FAP diagnosis and their partners considered PND and PGD as acceptable for themselves. A positive attitude was associated with higher levels of guilt and a positive attitude toward termination of pregnancy. Importantly, of those with FAP at childbearing age, 84% had had no previous information at all about either PND or PGD. Future efforts should be aimed at educating FAP family members about reproductive options, allowing them to make an informed choice about family planning. Routine discussion of all reproductive options with a medical specialist should be encouraged.

Female Fertility After Colorectal Surgery for Familial Adenomatous Polyposis: A Nationwide Cross-sectional Study

Background:Information on postoperative fertility problems in female patients with familial adenomatous polyposis (FAP) is scarce. Previous studies in FAP or colitis patients almost uniformly describe a reduction in fertility after ileal pouch-anal anastomosis, compared with ileorectal anastomosis. Objective:To describe fertility problems in female FAP patients after colectomy and to investigate the relationship between self-reported fertility problems and the type of operation and other surgery-related factors (eg, comorbid conditions). Methods:A questionnaire addressing surgery, fertility problems, and desire to have children was sent to a nationwide sample of FAP patients. Medical data were verified in the FAP-registry of the Netherlands Foundation for the Detection of Hereditary Tumors. Differences between women with and without fertility problems were investigated. Results:Of 138 patients, 23 (17%) reported current or past fertility problems. The prevalence of fertility problems was similar among those who had undergone ileorectal anastomosis, ileal pouch-anal anastomosis, and proctocolectomy with ileostomy. None of the other surgery-related factors, nor desmoid tumors or cancer were associated significantly with the development of fertility problems. Patients reporting fertility problems were significantly younger at diagnosis of FAP (mean, 20 vs. 27 years, P < 0.05) and at the time of the first surgical procedure (mean, 22 vs. 28 years, P < 0.05). Conclusions:The risk of developing postoperative fertility problems is not associated significantly with the type of surgery, indication for surgery, complications, or other comorbid conditions. Postoperative fertility problems are more common among women who had their first surgical procedure at a younger age.

Long‐term compliance with endoscopic surveillance for familial adenomatous polyposis

Aim  The study assessed compliance of patients with familial adenomatous polyposis (FAP) with endoscopic surveillance.

Psychological distress and quality of life of partners of individuals with familial adenomatous polyposis

Objective: Familial adenomatous polyposis (FAP) is a genetic condition characterized by the development of multiple adenomas in the colorectum that could lead to colorectal cancer. Our aim was to assess levels and predictors of psychological distress and quality of life (QOL) among partners of FAP‐patients.

Quality of life and consequences for daily life of familial adenomatous polyposis (FAP) family members

Aim  The study aimed to document the impact of familial adenomatous polyposis (FAP) on health‐related quality of life (HRQOL) and several practical aspects of daily life, and to identify factors significantly associated with HRQOL. This study is the first to compare HRQOL between patients with FAP, at‐risk individuals and noncarriers.

Clinical evidence for an association between familial adenomatous polyposis and type II diabetes.

1 The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands 2 Division of Medical Psychology, Academic Medical Centre, Amsterdam, The Netherlands 3 Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute, Amsterdam, The Netherlands 4 Hubrecht Institute for Developmental Biology and Stem Cell Research, Utrecht, The Netherlands 5 Royal Netherlands Academy of Arts and Sciences, University Medical Center Utrecht, Utrecht, The Netherlands 6 Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands