Genetic Screening
Genetic risk score plus lung function questionnaire improves COPD prediction
The ability to predict spirometry-defined COPD was significantly better when a modified lung function questionnaire score was used in combination with a COPD polygenic risk score, according to results published in JAMA.
Platelet reactivity score may predict heart attack, stroke risk beyond BP, cholesterol
A platelet reactivity score that identifies people with a hyperreactive platelet phenotype can be used to determine those who might be at elevated risk for a cardiovascular event, researchers reported in Nature Communications.
Ballantyne: Prevention of heart disease crucial, core of NLA’s mission
Prevention of heart disease will do more good in the long run than procedures to treat advanced heart disease, the incoming president of National Lipid Association said at the NLA’s Scientific Sessions.
Pharmacogenomic factors may not predict opioid use after TKA vs. psychosocial factors
Compared with an analysis of psychosocial variables, pharmacogenomic factors were not predictive of pain or opioid use after total knee arthroplasty, according to published results.
Heterogeneity in germline susceptibility to renal cell carcinoma has genetic screening implications
NASHVILLE, Tenn. — An analysis of germline susceptibility to renal cell carcinoma revealed considerable heterogeneity, according to findings presented at International Kidney Cancer Symposium: North America.
Clear communication can facilitate family member screenings after sudden cardiac death
Health care provider interactions with family members after a relative’s sudden cardiac death vary in type, format and timing, and stress surrounding the event can affect relatives’ decisions to pursue genetic screenings, data show.
Q&A: Genetic-based screening may provide insight into rare forms of epilepsy
Genetic-based screening tests among children with epilepsy may provide knowledge into the clinical characteristics of molecular diagnoses of rarer forms of the disorder, researchers found.
Q&A: Advancing maternal age and role of prenatal genetic testing
The mean maternal age at first birth has been increasing in the United States in recent years, from 24.9 years in 2000 to 27 years in 2019, according to two CDC reports.
Genetic testing shows potential in pediatric ophthalmology
Several applications for genetic testing in ophthalmology have been explored, ranging from keratoconus decision-making to refractive surgery screening.
New prenatal test saves time, money in identifying chromosomal abnormalities
A new genetic testing method may save time and money in the detection of abnormal chromosomes compared with traditional prenatal tests, according to correspondence published in The New England Journal of Medicine.