Genomics in the Scientific Literature [18] - Family History

Genomics in the Scientific Literature
Topics in the Scientific Literature

Family History

1. Deriving Consumer-Facing Disease Concepts for Family Health Histories Using Multi-Source Sampling
Hulse NC, et al.
J Biomed Inform 2010 Apr

J Biomed Inform. 2010 Apr 8. [Epub ahead of print]

Deriving Consumer-Facing Disease Concepts for Family Health Histories Using Multi-Source Sampling.
Hulse NC, Wood GM, Haug PJ, Williams MS.

Intermountain Healthcare, Salt Lake City, UT, USA; Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.

Abstract
The family health history has long been recognized as an effective way of understanding individuals' susceptibility to familial disease; yet electronic tools to support the capture and use of these data have been characterized as inadequate. As part of an ongoing effort to build patient-facing tools for entering detailed family health histories, we have compiled a set of concepts specific to familial disease using multi-source sampling. These concepts were abstracted by analyzing family health history data patterns in our enterprise data warehouse, collection patterns of consumer personal health records, analyses from the local state health department, a healthcare data dictionary, and concepts derived from genetic-oriented consumer education materials. Collectively, these sources yielded a set of more than 500 unique disease concepts, represented by more than 2,500 synonyms for supporting patients in entering coded family health histories. We expect that these concepts will be useful in providing meaningful data and education resources for patients and providers alike. Copyright © 2010. Published by Elsevier Inc.

PMID: 20382264 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20382264?dopt=Abstract


2. Family history of thyroid cancer and the risk of differentiated thyroid cancer in French polynesia
Brindel P, et al.
Thyroid 2010 Apr;20(4):393-400

Thyroid. 2010 Apr;20(4):393-400.

Family history of thyroid cancer and the risk of differentiated thyroid cancer in French polynesia.
Brindel P, Doyon F, Bourgain C, Rachédi F, Boissin JL, Sebbag J, Shan L, Bost-Bezeaud F, Petitdidier P, Paoaafaite J, Teuri J, de Vathaire F.

Radiation Epidemiology Group U1018, INSERM, Villejuif Cedex, France .

Abstract
Background: Differentiated thyroid carcinoma is considered to be the nonhereditary cancer for which familial inheritance is the highest. To date, no familial aggregation analysis of this cancer has been performed in Maohi populations, which exhibit a very high incidence rate. Therefore, we evaluate the risk of differentiated thyroid cancer associated with a family history of thyroid cancer in natives of French Polynesia. Methods: We investigated thyroid cancer incidence in the first-degree relatives of 225 cases of differentiated thyroid carcinomas diagnosed between 1979 and 2004 in patients born in French Polynesia, and 368 randomly selected population controls matched for sex and age, born and residing in French Polynesia. All but five thyroid cancers declared among relatives were validated. Results: Twenty-four cases declared a family history of thyroid cancer, when compared with 11 controls. Individuals with an affected first-degree relative had a 4.5-fold (95% confidence interval [CI], 1.9-10.6) increased risk of differentiated thyroid cancer. This odds ratio (OR) was not significantly higher when a male first-degree relative was affected (OR, 10.0; 95% CI, 1.3-74.8) compared with a female (OR, 4.0; 95% CI, 1.5-10.3) and was not different for patients who had a nonaggressive thyroid microcarcinoma (OR, 3.5; 95% CI, 0.6-16.4) than those who had a larger cancer (OR, 6.0; 95% CI, 1.8-20.5). This OR was borderline significantly (p, 0.07) higher in Maohis (OR, 11.0; 95% CI, 2.4-48.8) than in individuals of mixed origin (OR, 2.1; 95% CI, 0.8-5.9). Conclusion: Our study shows that the familial inheritance of differentiated thyroid cancer is particularly high in Maohi populations.

PMID: 20373983 [PubMed - in process]
http://www.ncbi.nlm.nih.gov/pubmed/20373983?dopt=Abstract




3. Risk Perceptions and Family History of Lung Cancer: Differences by Smoking Status
Chen LS & Kaphingst KA
Public Health Genomics 2010 Apr

Public Health Genomics. 2010 Apr 8. [Epub ahead of print]

Risk Perceptions and Family History of Lung Cancer: Differences by Smoking Status.
Chen LS, Kaphingst KA.

Department of Health and Kinesiology, Texas A&M University, College Station, Tex., USA.

Abstract
Background: Individuals with a family history of lung cancer have a two- to threefold increased risk for developing this disease. Family history information may be useful in lung cancer prevention and control approaches, but research is needed regarding how individuals interpret this information. This study examined associations between lung cancer family history and individuals' risk perceptions, based on smoking status. Methods: Data were analyzed from 5,105 U.S. adult respondents to the 2005 Health Information National Trends Survey, which was conducted with a nationally representative sample. Results: In multivariate models, family history of lung cancer was positively associated with absolute and relative risk perceptions among all respondents (beta = 0.60, 95% CI = 0.33-0.87 and beta = 0.17, 95% CI = 0.04-0.31, respectively) and among never smokers (beta = 0.40, 95% CI = 0.14-0.67 and beta = 0.14, 95% CI = 0.01-0.27, respectively). However, these associations were not significant for current and former smokers. Conclusion: While perceived risk was associated with family history of lung cancer among never smokers, this was not true for other smoking status subgroups. Therefore, former and current smokers might not respond as intended to cancer prevention or cessation messages tailored based on family history. The results suggest directions for future research into how to best integrate family history information into prevention and control efforts. Copyright © 2010 S. Karger AG, Basel.

PMID: 20375490 [PubMed - as supplied by publisher]
http://www.ncbi.nlm.nih.gov/pubmed/20375490?dopt=Abstract