Electronic Genealogy and Cancer Databases in Cancer Genetic Counselling

• Main Author: Stefánsdóttir, Vigdís
• Other Authors: Jón Jóhannes Jónsson, Læknadeild (HÍ), Faculty of Medicine (UI), Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland
• Format: Doctoral or Postdoctoral Thesis
• Language: English
• Published: University of Iceland, School of Health Sciences, Faculty of Medicine 2019
• Subjects: Áhættugreining; Krabbameinsráðgjöf; Ættfræði; Gagnagrunnar; Ættartengsl; BRCA1; BRCA2; Arfgengi; Brjóstakrabbamein; Risk assessment; Cancer genetic counselling; Genealogy database; Electronic generated pedigrees; Genetic counselling; Hereditary breast- and ovarian cancer; Læknisfræði; Doktorsritgerðir; Iceland
• Online Access: https://hdl.handle.net/20.500.11815/1361

The overall aim of this PhD thesis was to cohesively assess the availability and use of electronic genealogy databases and information from cancer registries to construct electronically generated pedigrees for risk assessment in genetic counselling. The thesis is built upon three published papers. Hereditary breast and ovarian cancer (HBOC), due to the Icelandic founder BRCA2 PV was used as an example. A second objective was to determine the optimal size of pedigrees for risk assessment in cancer genetic counselling. Three different approaches were used. Study I was a systematic literature review for articles describing the use of electronic genealogy and cancer databases in clinical service. Key findings: Published data on the use of such databases was limited, and the search identified only four articles fitting the search terms. Two of the papers were discussion papers. One of the four articles described an Icelandic study which applied information from the Genetical Committee of the University of Iceland. Study II was qualitative, on the experience of counsellees where electronically generated pedigrees (EGPs) were used in hereditary breast and ovarian cancer (HBOC) genetic counselling. Data was collected via an online focus group using an online discussion board. In genetic counselling, family health and genealogical history are collected to assess risk and clarify the inheritance mode of a suspected or known disorder. Key findings: Prior to genetic counselling, the majority of participants said that they had known about genetic counselling, and the most common reason for GC was a strong family history of cancer. Most participants were positive towards the use of electronic pedigrees and had trust in both the professionals and the information from the databases used to generate the pedigrees. Some, however, worried that insurance companies would obtain the information from the databases and possibly raise premiums or even deny insurance outright based on the information. Laws against genetic discrimination ...