Aetna considers appropriate genetic counseling unrelated to pregnancy medically necessary for consideration of, or provided in conjunction with, medically necessary genetic testing, and in accordance with the guidelines of the American College of Medical Genetics (ACMG). Experimental, Investigational, or Unp...
Carrier screening of female reproductive partner planning a pregnancy and has family history of SBMA; or Prenatal testing in the offspring of the biological parent with confirmed AR CAG trinucleotide repeat mutation. Aetna considers genetic testing for SBMA experimental, investigational, or unproven for ...
To capture the distribution of disease prevalence across age and sex, we computed disease prevalence curves by dividing the total number of disease codes (ICD codes) within each age-sex stratum by the number of enrolled patients matching these demographics (see Methods part 1 for the precise defi...
To determine whether sequence variants with a strong deficit of homozygosity resulted from losses early or late in pregnancy, we examined the reproductive history of heterozygous carrier couples, looking for an excess of miscarriages or early death among their offspring. Also, we assessed the effects...
These independent groups of individuals for b) HCM and c) DCM, were separated by carrier status. For HCM-associated variants, there were 28,006 genotype-negative participants (Negative), 6,040 participants with variants in syndromic genes (Positive1), 1,330 participants with common variants (AF...
[88]. Similar programs were implemented in Italy, Iran, and Greece, achieving a significant reduction in ß-thalassemia births [89,90]. Thus, premarital counseling can be regarded as one of the most effective measures to reduce the incidence of genetic disease associated with a high carrier ...
Fig. 4: Interaction betweenPNPLA3p.Ile148Met (rs738409), environment and risk of liver-related outcomes in the UKB. Shown are the association betweenrs738409carrier status and risk of five liver outcomes according to BMI categories (<30 versus ≥30 kg m−2), weekly alcohol intake (...
On the other hand, the inci- dence and prevalence of CAD are high in a first world popula- tion, and therefore, it is not uncommon for a DCM gene carrier to also have CAD, confounding family history assessments. Because of the age dependency of CAD, we treat any unex- pected death ...
For the DiscovEHR study and DiscovEHR replication cohort,ANGPTL4pLoFs were extracted from exome sequence data generated at the Regeneron Genetics Center® according to the protocols described above for the DiscovEHR study and DiscovEHR replication cohort.ANGPTL4pLoF carrier status and type 2 di...
In the FOLFIRI+cetuximab group, they found that the patients’ carrier TXN2-rs4821494-G allele and GPX4-rs4807542-A allele had worse OS, confirmed by multivariate analysis (HR:2.47, p = 0.03; HR:2.24, p = 0.05). The TXN2-rs4821494 polymorphism is located in the 5′UTR and the T...