Meisel Susanne F, Carere Deanna Alexis, Wardle Jane, Kalia Sarah S, Moreno Tanya A, Mountain Joanna L, Roberts J Scott, Green Robert C
Cancer Research UK Health Behaviour Research Centre, Department of Epidemiology and Public Health, University College London, London, UK.
Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, 75 Francis St, Boston, MA 02115 USA ; Program in Genetic Epidemiology and Statistical Genetics, Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115 USA.
Genome Med. 2015 Aug 1;7(1):74. doi: 10.1186/s13073-015-0188-5. eCollection 2015.
There is a widespread assumption that risk prediction is the major driver of customer interest in personal genomic testing (PGT). However, some customers may also be motivated by finding out whether their existing diseases have a genetic etiology. We evaluated the impact of an existing medical diagnosis on customer interest in condition-specific results from PGT.
Using a prospective online survey of PGT customers, we measured customer interest prior to receiving PGT results for 11 health conditions, and examined the association between interest and personal medical history of these conditions using logistic regression.
We analyzed data from 1,538 PGT customers, mean age 48.7 years, 61 % women, 90 % White, and 47 % college educated. The proportion of customers who were 'very interested' in condition-specific PGT varied considerably, from 28 % for ulcerative colitis to 68% for heart disease. After adjusting for demographic and personal characteristics including family history, having a diagnosis of the condition itself was significantly associated with interest in genetic testing for risk of that condition, with odds ratios ranging from 2.07 (95 % CI 1.28-3.37) for diabetes to 19.99 (95 % CI 4.57-87.35) for multiple sclerosis.
PGT customers are particularly interested in genetic markers for their existing medical conditions, suggesting that the value of genetic testing is not only predictive, but also explanatory.
人们普遍认为风险预测是客户对个人基因组检测(PGT)感兴趣的主要驱动因素。然而,一些客户可能也受到想要了解其现有疾病是否有遗传病因的驱使。我们评估了现有医学诊断对客户对PGT特定疾病结果的兴趣的影响。
通过对PGT客户进行前瞻性在线调查,我们在客户收到11种健康状况的PGT结果之前测量了他们的兴趣,并使用逻辑回归分析了兴趣与这些疾病的个人病史之间的关联。
我们分析了1538名PGT客户的数据,他们的平均年龄为48.7岁,61%为女性,90%为白人,47%受过大学教育。对特定疾病的PGT“非常感兴趣”的客户比例差异很大,从溃疡性结肠炎的28%到心脏病的68%不等。在调整了包括家族史在内的人口统计学和个人特征后,患有该疾病本身与对该疾病风险的基因检测的兴趣显著相关,糖尿病的优势比为2.07(95%CI 1.28 - 3.37),多发性硬化症的优势比为19.99(95%CI 4.57 - 87.35)。
PGT客户对其现有疾病的基因标记特别感兴趣,这表明基因检测的价值不仅在于预测,还在于解释。