Dataset Information

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

ABSTRACT: PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

SUBMITTER: Cascella R

PROVIDER: S-EPMC5811711 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Cascella R R Strafella C C Longo G G Manzo L L Ragazzo M M De Felici C C Gambardella S S Marsella L T LT Novelli G G Borgiani P P Sangiuolo F F Cusumano A A Ricci F F Giardina E E

Eye (London, England) 20170915 2

PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped ...[more]

PMID: 28912512

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Project description:BackgroundCouples HIV testing and counseling (CHTC) is now a standard of care prevention strategy recommended by the Centers for Disease Control and Prevention for sexual minority men (SMM) in relationships. Despite standard recommendations that couples complete CHTC every 6-12 months, no study has empirically evaluated the effects associated with CHTC retesting.ObjectiveThis study aims to understand the benefits associated with continued dyadic engagement in the HIV prevention continuum through routine CHTC retesting, which is of particular importance for emerging-adult SMM in relationships who use drugs.MethodsEligible couples for this CHTC retesting trial must already be enrolled in the 4Us trial, where they completed a CHTC session after their baseline survey. The purpose of the original 4Us trial was to test the efficacy of 2 intervention components for CHTC: a communication skills training video and a substance use module. Couples were eligible for the original 4Us trial if they identified as cisgender male, were in a relationship for 3 months or longer, were aged 17 years or older, and communicated in English. At least 1 partner had to be aged 17-29 years, report HIV negative or unknown serostatus, report use of at least 1 drug (cannabis, cocaine or crack, crystal methamphetamine, ketamine, gamma-hydroxybuterate [GHB], psychedelics, ecstasy, prescription medication misuse, opiates, and nitrates) use, and engage in condomless anal sex (CAS) acts with a casual partner or have a main partner who is nonmonogamous or serodiscordant. Those who complete the 4Us 12-month follow-up and remain in a relationship with the partner they participated in 4Us with are offered the opportunity to participate in this CHTC retesting trial. Those consenting are randomized to either CHTC retesting or individual HIV testing. Follow-up assessments are conducted 3 and 6 months after randomization to evaluate the effects of repeat CHTC on 2 primary outcomes: (1) CAS with a casual partner in the absence of preexposure prophylaxis (PrEP), and (2) CAS with a serodiscordant main partner who is not virally suppressed or concurrent CAS between main and casual partners in the absence of PrEP.ResultsThe CHTC retesting trial launched in January 2023, and enrollment is ongoing. As of February 2024, the study had enrolled 106 eligible participants (n=53 couples).ConclusionsFindings from this CHTC retesting study will contribute to knowledge about the benefits associated with regular (repeated) CHTC testing versus routine individual HIV testing for SMM in relationships. The results of this trial will inform CHTC retesting guidance.Trial registrationClinicalTrials.gov NCT05833074; htps://www.clinicaltrials.gov/study/NCT05833074.International registered report identifier (irrid)DERR1-10.2196/53023.

Dataset Information

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Publications

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

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