Family History: Research Paper

Family History
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Family History
Family history is considered as one of the important factors in disease diagnosis. In the recent past, breast cancer cases have been using family history as an important risk factor. Approximately 13% to 20% of breast cancer cases diagnosed tend to have first-degree relatives (Oyewale et al., 2017). The risk of breast cancer is estimated to gradually increase within a first-degree relative compared to women without a first-degree relative history. Alzheimer's disease (AD) is a neuron degrading disease that causes a mental disorder known as dementia. Mutations in 3 genes provide a basis to understand the autosomal dominant young-onset AD cases among families, and they account for about 5% of AD cases (Shiyanbola et al., 2017). Genetic variation accounts for about 53% of AD risk variance by single nucleotide polymorphisms.
Family history is a significant risk indicator that has its major variable as close relatives. For most clinicians, family history is an advantage to determining risk and precise diagnosis that will improve informed health decision-making from both the practitioners and patients (Oyewale et al., 2017). Taking Alzheimer's disease as a case study, in march 2016, there we 55 cases reported from a sample of 500,000 public members in the UK Biobank. It was noted that more than 60,000 participants had either of their relatives or parent diagnosed with the disease.
A standard model for collecting family history data is the questionnaire and checklist method. In most cases, the eligible participants must be eighteen years old and above, be capable of speaking, reading, and writing in English, must-have information on their family history. Patients with an underlining condition such as congenital heart defects, current diagnosis of hypertension, and dyslipidemia were deemed an ineligible candidate for sample analysis using family history (Oyewale et al., 2017). To evaluate family disease, patients must provide sets of information: the family members mentioned and conditions in the family history. For purposes of clarity, the members must be existing, and disease spans are taken into consideration. For a member with several entities, only one true positive is counted. Partial matching of observation is allowed. To be considered as a correct prediction, all family entities must be filled. The standard F1-score is used to ranking metrics.
Precision = TP / (TP + FP)
Recall = TP / (TP + FN)
F1 = (2 Precision × Recall) / (Precision + Recall)
The risk from family history constellations, based on the number of affected first-degree relatives, age at death, sex of proband, and maternal vs. paternal inheritance. The relative risk for each family history is calculated as a ratio among observable cases and expected cases.