Factors Likely to Affect the Uptake of Genomic Approaches to Cancer Screening in Primary Care: A Scoping Review

Genomic tests are being developed for use in cancer screening. As most screening is offered in primary care settings, primary care provider and patient perceptions of such tests are likely to affect uptake. We conducted a scoping review to synthesize information on factors likely to affect patient and provider use of biospecimen collection and analysis for cancer screening, methods referred to as liquid biopsy or multi-cancer early detection (MCED) testing when used to detect multiple cancers. We ultimately identified 7 articles for review and analyzed them for major themes. None reported on primary care provider perspectives. Six articles focused on patient perceptions about testing for a single cancer (colorectal), and 1 reported on patient views related to testing for multiple cancers. Factors favoring this type of testing included its non-invasiveness, and the perceived safety, convenience, and effectiveness of testing. There is a dearth of information in the literature on primary care provider perceptions about liquid biopsy and MCED testing. The limited information on patient perceptions suggests that they are receptive to such tests. Research on primary care provider and patient test-related knowledge, attitudes, and behavior is needed to guide future implementation in primary care settings

Iron Deficiency and Acute Seizures: Results from Children Living in Rural Kenya and a Meta-Analysis

There are conflicting reports on whether iron deficiency changes susceptibility to seizures. We examined the hypothesis that iron deficiency is associated with an increased risk of acute seizures in children in a malaria endemic area

Parasite Densities by Clinical Status and α ⁺-Thalassaemia Genotype

<p>Geometric mean parasite densities are shown with 95% CIs. Data on symptomless parasitaemia reflect 59 measurements on normal (αα/αα) children, 100 on heterozygotes (−α/αα), and 23 on homozygotes (−α/−α) for α⁺-thalassaemia. The equivalent figures for mild, hospital, and severe malaria are described in <a href="http://www.plosmedicine.org/article/info:doi/10.1371/journal.pmed.0030158#pmed-0030158-t001" target="_blank">Tables 1</a> and <a href="http://www.plosmedicine.org/article/info:doi/10.1371/journal.pmed.0030158#pmed-0030158-t002" target="_blank">2</a>. Between-genotype differences were tested using linear regression both with and without adjustments for age, season, and within-patient clustering. No significant differences were found. </p

Haemoglobin Concentrations at Steady State and During Episodes of Clinical P. falciparum Malaria

<p>Values are means (with standard errors). 1 g/dl = 10 g/l Data for steady state, all malaria admissions, and severe malaria admissions derive from the birth cohort study. Severe malaria was defined as described in the text. Study participants (and genotypes) numbered as follows: steady state <i>n</i> = 2,104 (αα/αα, 739; −α/αα, 1,017; −α/−α, 348); all malaria admissions <i>n</i> = 434 (αα/αα, 174; −α/αα, 196; −α/−α, 64); and severe malaria admissions <i>n</i> = 146 (αα/αα, 67; −α/αα, 55; −α/−α, 24). Data for uncomplicated malaria derive from the mild disease cohort study. Data for αα/αα reflect 420 measurements in 96 study participants; for −α/αα are from 701 in 149; and for −α/−α are from 212 in 56. Amongst children in steady state, mean difference (β) = −2.6 g/l (95% CI, −4.1,−1.1; <i>p</i> = 0.001) and −5.6 (−7.8,− 3.8; <i>p</i> < 0.001) for −α/αα and −α/−α, respectively. The equivalent β values for uncomplicated malaria were −3.2 (−5.6,−7.7; <i>p</i> = 0.010) and −6.8 (−10,−3.4; <i>p</i> < 0.001); for hospital-admitted malaria were 8.4 (2.8,14.1; <i>p</i> = 0.003) and 0.97 (0.29,1.65; <i>p</i> = 0.005); and for severe malaria were 1.08 (−0.10,2.25; <i>p</i> = 0.072) and 13.8 (0.60,26.9; <i>p</i> = 0.041). These figures were adjusted for age (as continuous) and sex, and for potential within-person clustering where children contributed more than one data point. </p

Negative epistasis between the malaria-protective effects of alpha (+) thalassaemia and the sickle cell trait [MIM-TW-395505]

The hemoglobinopathies, disorders of hemoglobin structure and production, protect against death from malaria. In sub-Saharan Africa, two such conditions occur at particularly high frequencies: presence of the structural variant hemoglobin S and alpha(+)-thalassemia, a condition characterized by reduced production of the normal alpha-globin component of hemoglobin. Individually, each is protective against severe Plasmodium falciparum malaria, but little is known about their malaria-protective effects when inherited in combination. We investigated this question by studying a population on the coast of Kenya and found that the protection afforded by each condition inherited alone was lost when the two conditions were inherited together, to such a degree that the incidence of both uncomplicated and severe P. falciparum malaria was close to baseline in children heterozygous with respect to the mutation underlying the hemoglobin S variant and homozygous with respect to the mutation underlying alpha(+)-thalassemia. Negative epistasis could explain the failure of alpha(+)-thalassemia to reach fixation in any population in sub-Saharan Africa