Issues, challenges, and future perspectives of genetic counseling in Republic of Korea: Perspectives of laboratory physicians based on a 2022 survey.

The field of genetic counseling (GC) in the Republic of Korea has evolved from a single medical doctor's clinic to a multidisciplinary service with medical geneticists and non-medical professionals working as a team. Here, we assessed the current status of GC in the Republic of Korea based on professional surveys from the perspective of laboratory physicians. An electronic survey was designed and conducted, with the respondents being 50 certified laboratory physicians who were members of the Korean Society for Genetic Diagnostics.

Current Issues, Challenges, and Future Perspectives of Genetic Counseling in Korea.

Genetic testing has become increasingly integrated into all areas of healthcare, and complex genetic testing usage continues to grow; thus, the demand for genetic counseling (GC) is likely to increase. However, it is unclear whether the current clinical GC capacity is sufficient for meeting the existing demand. This review describes the current issues, challenges, and future perspectives of GC in Korea based on a professional survey conducted among laboratory physicians.

Two Cases of SARS-CoV-2-Positive Mothers and Their Newborns in Korea.

It is unclear how severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) affects pregnant women and their fetuses or newborns. We report two infants born to mothers with coronavirus disease 2019 (COVID-19) in Korea. The first case was a healthy female baby born at 39 weeks' gestation from a mother diagnosed with COVID-19.

Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort.

We investigated the effects of anthropometric, laboratory, and lifestyle factors on the development of non-alcoholic fatty liver disease (NAFLD) in a nationwide, population-based, 4-year retrospective cohort. The propensity score-matched study and control groups contained 1,474 subjects who had data in the Korean National Health Insurance Service-National Sample Cohort in 2009, 2011, and 2013. NAFLD was defined using medical records of a diagnosis confirmed by primary clinicians and meeting two previously validated fatty liver prediction models.

Development and validation of a nomogram to predict pulmonary function and the presence of chronic obstructive pulmonary disease in a Korean population.

Background: Early suspicion followed by assessing lung function with spirometry could decrease the underdiagnosis of chronic obstructive pulmonary disease (COPD) in primary care. We aimed to develop a nomogram to predict the FEV/FVC ratio and the presence of COPD.

Methods: We retrospectively reviewed the data of 4241 adult patients who underwent spirometry between 2013 and 2019.

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study.

Background: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea.

Methods: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database.

Results: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies.

Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea.

Background: Genetic counseling (GC) provides many benefits, including the identification of patients appropriate for testing, patient education, and medical management. We evaluated the current status of and challenges faced by GC practitioners in Korean hospitals.

Methods: An electronic survey was designed and conducted in 52 certified laboratory physicians belonging to the Korean Society of Laboratory Medicine, from August to September 2018.

Hemoglobin Concentration Reference Interval Revisited: a Nationwide Study from Korea.

Background: Anemia is a common cause among the elderly for increased mortality. Hemoglobin concentration can be affected by many factors, but the reference interval defined by the World Health Organization has not been adjusted for the previous half century.

Methods: Through using the dataset generated by the National Health Insurance (NHI) health screening program of Republic of Korea, here we attempt to present a close to actual hemoglobin concentration of the Korean population.

Clinical Implications of Quantitative JAK2 V617F Analysis using Droplet Digital PCR in Myeloproliferative Neoplasms.

Background: JAK2 V617F is the most common mutation in myeloproliferative neoplasms (MPNs) and is a major diagnostic criterion. Mutation quantification is useful for classifying patients with MPN into subgroups and for prognostic prediction. Droplet digital PCR (ddPCR) can provide accurate and reproducible quantitative analysis of DNA.

A Novel 1.13 Mb Interstitial Duplication at 19q13.32 Causing Developmental Delay and Microcephaly in a Pediatric Patient: the First Asian Case Reports.

Only 6 patients with partial trisomy of the long arm of chromosome 19 (19q), caused by direct interstitial duplications, have been reported until today. Herein, we report a pediatric patient with a novel 1.13 Mb direct interstitial duplication within 19q13.

Clinical and Molecular Delineation of a Novel Cys1050Phe Missense Mutation in the ABCC9 Gene in a Korean Patient with Cantú Syndrome.

Cantú syndrome is characterized by congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia and is recognized as a rare syndrome. Although it has previously been reported that the majority of affected individuals have a relatively good prognosis, there are no reports on long-term follow up. Here we report the first case of Cantú syndrome in Korea and the associated changes in overall development with rehabilitation over several months.

Fecal Occult Blood Test Results of the National Colorectal Cancer Screening Program in South Korea (2006-2013).

There has been controversy regarding the clinical utility of fecal occult blood test (FOBT) as a screening tool for colorectal cancer (CRC) in the general population. The purpose of this study was to examine the results of Korea national CRC screening using FOBT from 2006 to 2013 and to evaluate the implementation of the program. We analyzed the results of FOBT, colonoscopy, and the side effects during colonoscopy for the subjects (n = 20,609,909) from the Korea National Health Insurance Cancer Screening database.

Real world epidemiology of myeloproliferative neoplasms: a population based study in Korea 2004-2013.

Myeloproliferative neoplasms (MPNs), with an expected increment in number, impose substantial economic and social burdens. To this end, we conducted a nationwide population-based descriptive epidemiology study. We also investigated medical cost associated with MPNs.

Development and diagnostic application/evaluation of pandemic (H1N1) 2009 influenza virus-specific monoclonal antibodies.

We prepared mAb specific to the H1N1 2009 virus (H1N1 2009) to facilitate development of an RDT with enhanced sensitivity and specificity. Among these antibodies, we identified two clones--hybridomas 1H7E1 and 3A3H7-that specifically bound to H1N1 2009 (non-seasonal) and were very suitable for application to a diagnostic kit. The affinity constants (K(a)) of 1H7E1 and 3A3H7 were 1.

Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.

Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease presenting with skin fibrofolliculomas, pulmonary cysts, primary spontaneous pneumothorax (PSP), and renal cancer. It is caused by germline mutations in the FLCN gene, which encodes folliculin. Here we report a novel in-frame deletion mutation p.

A Gly1609Arg missense mutation in the vWF gene in a Korean patient with von Willebrand disease type 2A.

We describe a case of a c.4825G>A (p.Gly1609Arg [Gly846Arg]) missense mutation in the gene encoding von Willebrand factor (vWF) in a Korean patient with von Willebrand disease (vWD) type 2A.

A rare splicing mutation in the PROS1 gene of a Korean patient with type I hereditary protein S deficiency.

Hereditary protein S (PS) deficiency (Gene ID: 5627; MIM # 176880) is a notable risk factor for recurrent venous thrombosis, inherited as an autosomal-dominant trait, either homozygous or heterozygous. It may be caused by point mutations in the gene (PROS1) encoding PS, which contains 15 exons on the chromosome 3q11.2.

Development and evaluation of a rapid diagnostic test for Plasmodium falciparum, P. vivax, and mixed-species malaria antigens.

Plasmodium falciparum and P. vivax malaria are endemic to many parts of the world and humans can be co-infected with both species. Because each Plasmodium species has different biological and clinical characteristics, accurate differentiation of the infecting species is essential for effective treatment.