High school Tay–Sachs disease carrier screening: 5 to 11-year follow-up

Abstract

The Melbourne high school Tay-Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively designed questions. Questionnaires were sent to all carriers and two non-carriers for each carrier who were screened in the program between 1999 and 2005. Twenty-four out of 69 (34.8 %) carriers and 30/138 (21.7 %) non-carriers completed the questionnaire. Most participants (82 %) retained good knowledge of TSD and there was no evidence of a difference in knowledge between carriers and non-carriers. Most participants (83 %) were happy with the timing and setting of screening and thought that education and screening for TSD should be offered during high school. There was no difference between carriers and non-carriers in mean scores for the State Trait Anxiety Inventory and Decision Regret Scale. This evaluation indicated that 5-11 years post high school screening, those who were screened are supportive of the program and that negative consequences are rare.

Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth

“…Carrier screening is often discussed at the patient’s first prenatal visit and not during annual wellness or preconception visits [7]. International efforts to encourage preconception expanded carrier screening have demonstrated some successes in uptake, knowledge of, and attitude towards screening [8, 9]. However, efforts to encourage preconception carrier screening in the Jewish community have had limited success in the United States, and many Jews of reproductive age are unaware of the importance and availability of screening [10].…”

Tay-Sachs disease

“…27Epidemiology TSD is rarely found in the general population, with an estimated prevalence of 1 per 220 000-320 000 individuals, while the carrier frequency in the general population is approximately 1:300. (9,12,(29)(30)(31) Parental consanguinity is a risk factor for the manifestation of this autosomal recessive genetic disease (29), which explains why there are population groups that may show mutations in the HexA gene at higher allelic frequencies, such as the Ashkenazi Jews, whose frequency of carrier is estimated at 1:30. (12,29,(32)(33)(34) It is also high among Pennsylvania Dutch, Canadians from eastern Quebec, Cajuns, Irish and Italians.…”

“…(7,29) Three common mutations account for more than 99% of all mutations in the Ashkenazi Jewish community. (9) Because the TSD rate is higher among Jews, it is important to clarify that this community is not only found in Israel, where 44% of the population is of this ethnicity, since the remaining 56% is distributed in different countries such as the United States (39.3%), France (3.1%), Canada (2.7%) and United Kingdom (2.0%). (35) In America, the total Jewish population is 6 470 600; the United States, Canada, Argentina, Mexico, Brazil and Uruguay have the highest figures.…”

“…7If an individual is Jewish -or even if s/he has a Jewish grandparent-, is aged between 18 and 44 years old and plans to have children, the probability that they have the disease is 1 in 3 100 live births. (8,9) Recent technological advances and demographic changes are modifying the way professionals study and explore TSD. A research by Lazarin et al (10) reveals that 40% of TSD carriers in their cohort were from non-targeted ethnic groups.…”

Effective provision of a genetic screening program delivered to University students with limited resources

“…Hexosaminidase A deficiency generates progressive neuronal cell death from around 6 months of age, proving fatal by age 4 [Patterson, ]. Targeted carrier screening programs in the Ashkenazi Jewish population have proved successful worldwide [Ioannou et al, ; Curd et al, ]. However, the UK National Screening Committee does not currently recommend systematic population screening [Lines, ].…”