The First Newborn Screening Study of T-Cell Receptor Excision Circle and κ- Deleting Recombination Excision Circle for Severe Combined Immunodeficiency in Korea: A Pilot Study

PURPOSE: Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we performed a screening test for T-cell receptor excision circle (TREC) and κ-deleting recombination excision circle (KREC) in neonates and investigated the awareness of SCID among their parents. METHODS: Collections of dried blood spots from neonates and parent surveys were performed at the Samsung Medical Center and Cheil General Hospital & Women's Healthcare Center in Korea. The amplification crossing point (Cp) value 39.0 was defined as negative. RESULTS: For TREC/KREC screening, 141 neonates were enrolled; 63 (44.7%) were male. One hundred forty neonates (99.3%) had positive TREC/KREC results at the time of the initial test; 82.3% and 75.9% were positive and 17.0% and 23.4% were weakly positive for TREC and KREC, respectively. In one neonate (0.7%), the initial TREC/KREC test result was negative. However, repeated tests obtained and confirmed a positive result. For an awareness survey, 168 parents were engaged. Only 2% of parents (3/168) knew that the newborn screening test for SCID had been introduced and performed in other countries. Eighty-four percent of parents (141/168) replied that nationwide newborn SCID screening should be performed in Korean newborns. CONCLUSIONS: In this study, newborn SCID screening was performed along with assessment of public awareness of the SCID test in Korea. The study results showed that newborn SCID screening can be readily applied for clinical use at a relatively low cost in Korea.

A study of consumers' perceptions and prediction of consumption patterns for generic health functional foods

The Korea Food and Drug Administration (KFDA) revised the Health Functional Food Act in 2008 and extended the form of health functional foods to general food types. Therefore, this study was performed to investigate consumers' perceptions of the expanded form of health functional food and to predict consumption patterns. For this study, 1,006 male and female adults aged 19 years and older were selected nationwide by multi-stage stratified random sampling and were surveyed in 1:1 interviews. The questionnaire survey was conducted by Korea Gallup. The subjects consisted of 497 (49.4%) males and 509 (50.6%) females. About 57.9% of the subjects recognized the KFDA's permission procedures for health functional foods. Regarding the health functional foods that the subjects had consumed, red ginseng products were the highest (45.3%), followed by nutritional supplements (34.9%), ginseng products (27.9%), lactobacillus-containing products (21.0%), aloe products (20.3%), and Japanese apricot extract products (18.4%). Opinions on expanding the form of health functional foods to general food types scored 4.7 points on a 7-point scale, showing positive responses. In terms of the effects of medicine-type health functional foods versus generic health functional foods, the highest response was 'same effects if the same ingredients are contained' at a rate of 34.7%. For intake frequency by food type, the response of 'daily consistent intake' was 31.7% for capsules, tablets, and pills, and 21.7% for extracts. For general food types, 'daily consistent intake' was 44.5% for rice and 22.8% for beverages, which were higher rates than those for medicine types. From the above results, consumers had positive opinions of the expansion of health functional foods to generic forms but are not expected to maintain accurate intake frequencies or amounts. Thus, continuous promotion and education are needed for proper intake of generic health functional foods.