The use of genealogy databases for risk assessment in genetic health service: a systematic review

Stefánsdóttir, Vigdís; Jóhannsson, Óskar T.; Skirton, Heather; Tryggvadóttír, Laufey; Tulinius, Hrafn; Jónsson, Jón J.

doi:10.1007/s12687-012-0103-3

Cited by 16 publications

(14 citation statements)

References 15 publications

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“…So far, the leading approach has mainly relied on local data record repositories such as churches or vital record offices (19)(20)(21). While playing an important role in previous studies, this approach has several limitations (22,23): first, it requires non-trivial resources to digitize the records and organize the data. Second, the resulting trees are usually limited in scope to the specific geographical area of the repository, which precludes comparisons between regions.…”

Section: Main Textmentioning

confidence: 99%

Quantitative analysis of population-scale family trees using millions of relatives

Kaplanis

Gordon

Wahl

et al. 2017

Preprint

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Family trees have vast applications in multiple fields from genetics to anthropology and economics. However, the collection of extended family trees is tedious and usually relies on resources with limited geographical scope and complex data usage restrictions. Here, we collected 86 million profiles from publicly-available online data from genealogy enthusiasts. After extensive cleaning and validation, we obtained population-scale family trees, including a single pedigree of 13 million individuals. We leveraged the data to partition the genetic architecture of longevity by inspecting millions of relative pairs and to provide insights to population genetics theories on the dispersion of families. We also report a simple digital procedure to overlay other datasets with our resource in order to empower studies with population-scale genealogical data. One Sentence SummaryUsing massive crowd-sourced genealogy data, we created a population-scale family tree resource for scientific studies.. CC-BY-NC 4.0 International license peer-reviewed) is the author/funder. It is made available under a The copyright holder for this preprint (which was not . http://dx.doi.org/10.1101/106427 doi: bioRxiv preprint first posted online Feb. 7, 2017; 2 Main TextFamily trees are mathematical graph structures that capture two fundamental processes: mating and parenthood. As such, the edges of the trees represent potential transmission lines for a wide variety of genetic, cultural, socio-demographic, and economic factors in the human population. The foundation of quantitative genetics is built on dissecting the interplay of these factors by overlaying data on family trees and analyzing the correlation of various classes of relatives (1-3). In addition, family trees can serve as a multiplier for genetic information by using study designs that leverage genotype or phenotype data from relatives (4-7), analyzing parent-of-origin effects (8), refining heritability measures (9, 10), or improving individual risk assessment (11)(12)(13). Beyond classical genetic applications, large-scale family trees have played an important role in a wide array of disciplines including human evolution (14,15), anthropology (16), and economics (17,18).Despite the range of applications, constructing population-scale family trees has been a labor-intensive process. So far, the leading approach has mainly relied on local data record repositories such as churches or vital record offices (19)(20)(21). While playing an important role in previous studies, this approach has several limitations (22,23): first, it requires non-trivial resources to digitize the records and organize the data. Second, the resulting trees are usually limited in scope to the specific geographical area of the repository, which precludes comparisons between regions. Finally, vital record data is usually subject to various privacy protections and regulations. This reduces its accessibility and complicates its fusion with other sources such of information such as genomic or health data.Her...

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Section: Main Textmentioning

confidence: 99%

Quantitative analysis of population-scale family trees using millions of relatives

Kaplanis

Gordon

Wahl

et al. 2017

Preprint

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“…This ability to link cancer and genealogical registries to the pedigree can be used to generate relevant information for the family history, which in turn can be used in cancer genetic counselling (Stefansdottir et al, 2013b). In order to do this, counsellees consent to have their family tree generated from the genealogy database of the Genetical Committee of the University of Iceland, which holds accurate genealogy information about Icelanders back to at least 1840 (Tulinius 2011).…”

Section: Introductionmentioning

confidence: 99%

Counsellee’s experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information

et al. 2016

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While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nationwide cancer registry. The aim of this descriptive qualitative study was to explore counsellees' experiences of genetic services, including family history taking, using these electronically generated pedigrees. Four online focus groups with 19 participants were formed, using an asynchronous posting method. Participants were encouraged to discuss their responses to questions posted on the website by the researcher. The main themes arising were motivation, information and trust, impact of testing and emotional responses. Most of the participants expressed trust in the method of using electronically generated pedigrees, although some voiced worries about information safety. Many experienced worry and anxiety while waiting for results of genetic testing, but limited survival guilt was noted. Family communication was either unchanged or improved following genetic counselling. The use of electronically generated pedigrees was well received by participants, and they trusted the information obtained via the databases. Age did not seem to influence responses. These results may be indicative of the particular culture in Iceland, where genealogical information is well known and freely shared. Further studies are needed to determine whether use of similar approaches to genealogical information gathering may be acceptable elsewhere.

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“…Due to long standing interest in genealogy and genetics in Iceland, several large electronic population-based genealogy databases are available. Further, it is mandatory to notify the Cancer Registry of any cancer diagnosis and the records are accurate as far back as 1911 (Stefansdottir et al 2013). Such databases are used in clinical genetics, mainly in cancer genetic counseling where an accurate family history is of great importance for risk assessment.…”

Section: Electronic Databasesmentioning

confidence: 99%

“…Large (up to 2,000 individuals) and accurate pedigrees going back to at least 1850 can be made electronically with information from the genealogy databases of the Genetical Committee of the University of Iceland (Tulinius 2011). In the case of cancer risk, the Cancer Registry adds the cancer diagnosis, age of onset and type of tumor to individual records to create a highly accurate and extensive electronic cancer pedigree (Stefansdottir, et al 2013). This process is based on a signed consent by the counselee.…”

Section: Electronic Databasesmentioning

confidence: 99%

Iceland—Genetic Counseling Services

Stefánsdóttir

Arngrı́msson

Jónsson

2013

Journal of Genetic Counseling

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This brief report aims to give an overview of the history and current status of clinical genetics services in Iceland and specific genetic counseling considerations for Iceland's population. Presently, there are two part time medical geneticists and one full time genetic counselor with an MSc education from Cardiff, within the Department of Genetic and Molecular Medicine, based in Iceland's only tertiary healthcare facility, Landspitali, the National University Hospital. An oncologist (20 %) also contributes to the cancer genetic counseling service. In addition, a pediatric medical geneticist has a 25 % appointment at the Children's Hospital. No other health care organization offers genetic counseling, and there are no private genetic counseling services.

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The use of genealogy databases for risk assessment in genetic health service: a systematic review

Cited by 16 publications

References 15 publications

Quantitative analysis of population-scale family trees using millions of relatives

Quantitative analysis of population-scale family trees using millions of relatives

Counsellee’s experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information

Iceland—Genetic Counseling Services

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