scholarly journals Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn Screening

2015 ◽  
Vol 2015 ◽  
pp. 1-4 ◽  
Author(s):  
Ayman Al-Sulaiman ◽  
Altaf A. Kondkar ◽  
Mohammad Y. Saeedi ◽  
Amal Saadallah ◽  
Ali Al-Odaib ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Newborn Screening ◽  
Positive Attitude ◽  
Genetic Disorders ◽  
Communication Education ◽  
Medical Interventions ◽  
Saudi Women ◽  
Knowledge And Attitudes ◽  
Health Authorities ◽  
Structured Questionnaire

Objective. To assess the attitude and knowledge of the Saudi mothers toward newborn screening (NBS) program.Methods. A total of 425 Saudi women (only mothers who have at least one pregnancy) participated in the study from different regions in Saudi Arabia and completed the structured questionnaire which sought their views on the NBS services.Results. A majority of the participating women (91.1%) supported the NBS program and felt it was very important and useful. However, knowledge of NBS was found to be very limited and only 34.6% knew that NBS was a test to detect genetic disorders. A lack of communication and counseling to NBS clients by health authorities offering screening is implied.Conclusion. In general, there is a positive attitude towards the NBS program among Saudi women. However, they have several concerns to improve the availability of medication and formulas, genetic counseling, medical interventions, communication, education materials, and awareness.

scholarly journals The Importance of Early Detection of Genetic Diseases

2021 ◽  
Vol 4 (2) ◽  
pp. 133-141
Author(s):  
Suma Elcy Varghese ◽  
Rana Hassan Mohammad El Otol ◽  
Fatma Sultan Al Olama ◽  
Salah Ahmad Mohamed Elbadawi
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Health Authority ◽  
Genetic Screening ◽  
Screening Program ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Inborn Errors ◽  
The Usa ◽  
Premarital Screening

<b><i>Background:</i></b> Early detection of diseases in newborn may help in early intervention and treatment, which may either cure the disease or improve the outcome of the patient. Dubai’s Health Authority has a newborn screening program which includes screening for metabolic and genetic conditions, for hearing and vision, and for congenital heart disease. <b><i>Objectives:</i></b> The objectives of this study are to assess the outcome of the newborn genetic screening program, to correlate the association between the outcome of the program and demographic variables and to find out the percentage of the number of infants who were confirmed to have the genetic disease (by confirmatory tests) out of the total infants who had positive screening test results. <b><i>Methods:</i></b> During the period of the study from January 2018 to December 2018, a total of 7,027 newborns were tested in Dubai Health Authority facilities by the newborn genetic screening program (known as the “Step One Screening”). Blood samples were collected by heel prick on a collection paper. All samples were transported to PerkinElmer Genomics in the USA where the tests were done. The genetic disorders identified were correlated with different variables like gender and nationality. The data were entered in an excel sheet and analyzed by using SPSS software. All infants aged 0–3 months who have done newborn genetic screening at Dubai Health Authority facilities between January and December 2018 were included. <b><i>Results:</i></b> The incidence of screened disorders was 1:7,027 for congenital adrenal hyperplasia, 1:1,757 for congenital hypothyroidism, 1:1,757 for inborn errors of metabolism, 1:2,342 for biotinidase deficiency, 1:1,171 for hemoglobinopathies, 1:12 for hemoglobinopathy traits, and 1:10 for different genetic mutations of G6PD deficiency. <b><i>Conclusions:</i></b> There is a high incidence of different genetic diseases detected by newborn screening. These results justify unifying the program in the UAE and preventive programs like premarital screening and genetic counseling.

scholarly journals Hormone Replacement Therapy: Lebanese Women’s Awareness, Perception, and Acceptance

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
A. Anastasia Salame ◽  
Mohammad J. Jaffal ◽  
Fatin Khalifeh ◽  
Dalia Khalife ◽  
Ghina Ghazeeri
Keyword(s):  
Hormone Replacement Therapy ◽  
Replacement Therapy ◽  
Positive Attitude ◽  
Medical Center ◽  
Hormone Replacement ◽  
Menopausal Symptoms ◽  
World Health ◽  
Knowledge And Attitudes ◽  
The World ◽  
Whi Study

Objectives. Hormone replacement therapy (HRT) had been the gold standard for the treatment of menopausal symptoms until the publication of the World Health Initiative (WHI) study. After the WHI study, the use of HRT changed among the physicians and patients all over the world despite newer more reassuring data. This study aimed to investigate the knowledge and attitudes of women towards HRT and the factors affecting it for better counseling. Study design. A clinic-based cross-sectional study using a survey was offered to women aged 40 years and above coming to the women’s health center at the American University of Beirut Medical Center (AUBMC) from October 1st, 2017, till March 31st, 2018. The questionnaire included questions about demographics and menopausal symptoms in addition to knowledge and attitudes towards menopause and HRT. Main outcome measures. Our main hypothesis was that women would be aware of HRT as a treatment modality; however, the majority would have a negative attitude towards its usage. Results. The response rate was 87.8%. Seventy-three percent of the respondents had already heard about HRT with 57.9% supporting the use of HRT; however, 47.9% did not know when to use it. The significant predictor for having heard about HRT and a positive attitude towards HRT were having HRT prescribed as a part of treatment and employment status, respectively. Conclusions. Lebanese women are aware of HRT as a treatment option; however, a lack of both proper information and positive attitude towards HRT use was noted.

scholarly journals The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

2021 ◽  
Vol 9 ◽  
Author(s):  
Audrey C. Woerner ◽  
Renata C. Gallagher ◽  
Jerry Vockley ◽  
Aashish N. Adhikari
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Genetic Disorders ◽  
Population Based ◽  
Lessons Learned ◽  
Screening Tests ◽  
Whole Genome ◽  
Whole Exome ◽  
Challenges And Opportunities ◽  
History Of

Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates. Screening tests were originally developed and implemented one at a time, but newer methods have allowed the use of multiplex technologies to expand additions more rapidly to standard panels. Recent improvements in next-generation sequencing are also evolving rapidly from first focusing on individual genes, then panels, and finally all genes as encompassed by whole exome and genome sequencing. The intersection of these two technologies brings the revolutionary possibility of identifying all genetic disorders in newborns, allowing implementation of therapies at the optimum time regardless of symptoms. This article reviews the history of newborn screening and early studies examining the use of whole genome and exome sequencing as a screening tool. Lessons learned from these studies are discussed, along with technical, ethical, and societal challenges to broad implementation.

scholarly journals Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Oladele Simeon Olatunya ◽  
Adefunke Olarinre Babatola ◽  
Ezra Olatunde Ogundare ◽  
Babatunde Ajayi Olofinbiyi ◽  
Olubunmi Adeola Lawal ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Sickle Cell Disease ◽  
Early Diagnosis ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Universal Coverage ◽  
Cell Disease ◽  
Cross Sectional ◽  
Southwestern State

Background. Early sickle cell disease (SCD) diagnosis has shown promise in combating SCD in many countries. The aim of this study was to assess the practice and perception of early SCD diagnosis among a group of parents and physicians in Nigeria. Patients and Methods. This was a cross-sectional descriptive study conducted to assess the opinions and practice of early diagnosis of SCD among 135 physicians caring for SCD patients and 164 mothers of children with SCD in a southwestern state of Nigeria. Results. Most physicians 132 (97.8%) were aware of prenatal SCD diagnosis, but only 51 (37.8%) would recommend it. Most physicians 129 (95.6%) routinely recommend premarital SCD genetic counseling and testing, and 89 (65.1%) were aware of the national government newborn screening program but lesser proportion 75 (55.6%) were willing to recommend it. Amongst the mothers, 154 (94%) and 158 (96%) had encountered genetic counseling for SCD and were willing to offer newborn screening to their children, respectively. On the contrary, fewer mothers 42 (25%) were aware of prenatal SCD diagnosis, 28 (17%) were willing to partake in it, and 44 (26%) were undecided. There were discrepancies in the willingness by physicians to practice early SCD diagnosis and its uptake by mothers (p<0.0001). The commonest reason given by both the physicians and mothers for not practicing SCD prenatal diagnosis was the high cost of the procedure. Conclusion. The perceptions and practice of early SCD diagnosis was suboptimal in the study locality. Scaling up awareness and universal coverage are required.

Assessing Deaf Awareness Training: Knowledge and Attitudes of Recent Genetic Counseling Graduates

2014 ◽  
Vol 24 (1) ◽  
pp. 104-116 ◽  
Author(s):  
Honey Nagakura ◽  
Gretchen Schneider ◽  
James Morris ◽  
Katherine A. Lafferty ◽  
Christina G. S. Palmer
Keyword(s):  
Genetic Counseling ◽  
Awareness Training ◽  
Knowledge And Attitudes

scholarly journals From a Single Child to Uniform Newborn Screening: My Lucky Life in Pediatric Medical Genetics

2018 ◽  
Vol 19 (1) ◽  
pp. 1-14 ◽  
Author(s):  
R. Rodney Howell
Keyword(s):  
Newborn Screening ◽  
Genetic Disorders ◽  
Glycogen Storage ◽  
Laboratory Research ◽  
Inborn Errors ◽  
Professional Experiences ◽  
Glycogen Storage Diseases ◽  
Whole Exome ◽  
Single Child ◽  
Residual Blood

Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-genome and whole-exome sequencing into newborn screening raises ethical and policy issues regarding informed consent procedures and the storage and use of residual blood spots.

scholarly journals Clinical and Regulatory Concerns of Biosimilars: A Review of Literature

2020 ◽  
Vol 17 (16) ◽  
pp. 5800
Author(s):  
Vesa Halimi ◽  
Armond Daci ◽  
Katerina Ancevska Netkovska ◽  
Ljubica Suturkova ◽  
Zaheer-Ud-Din Babar ◽  
...  
Keyword(s):  
Positive Attitude ◽  
Healthcare Professionals ◽  
Current Knowledge ◽  
Scientific Data ◽  
Cochrane Library ◽  
Review Of Literature ◽  
Safety And Efficacy ◽  
Knowledge And Attitudes ◽  
Clinical Profiles ◽  
Additional Support

Although biosimilars have been part of clinical practice for more than a decade, healthcare professionals (HCPs) do not fully accept them. This is because of the perception that biosimilars may not be like their originators in terms of quality, safety, and efficacy. This study aims to evaluate the current knowledge and attitudes of healthcare professionals toward biosimilar prescription, and to elaborate on their concerns. We reviewed the literature using PubMed, Cochrane Library, and Science Direct electronic databases in the period from 2018 to 2020. The knowledge and confidence of healthcare professionals vary between countries, between clinical profiles and between studies. Although most of the healthcare professionals had a positive attitude to prescribing biosimilars, they would still prefer to prescribe them in initial treatment. Generally, HCPs were against multiple switches and substitution of biosimilars at the pharmacy level. HCP’s key concern was interchangeability, with eventual consequences on the clinical outcome of patients. HCPs still approach biosimilars with caution and stigma. HCPs need to have an unbiased coherent understanding of biosimilars at clinical, molecular and regulatory levels. It was also observed that most of their concerns are more theoretical than science-based. Physicians are in an excellent position to accept biosimilars, but they need the additional support of regulatory authorities to approve and take into consideration the available scientific data regarding biosimilars.

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