scholarly journals Expensive molecular therapies for rare genetic disorders: carrier detection or newborn screening should be the strategy. A personal opinion.

2021 ◽  
Vol 1 (1) ◽  
Author(s):  
Haluk Topaloglu
Keyword(s):  
Newborn Screening ◽  
Genetic Disorders ◽  
Carrier Detection ◽  
Personal Opinion ◽  
Molecular Therapies

Haluk Topaloglu,Yeditepe University School of MedicineDepartment of Pediatricsİstanbul, Turkey

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 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 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 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 Editorial for Special Issue “Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies”

2019 ◽  
Vol 5 (4) ◽  
pp. 36
Author(s):  
Colombatti ◽  
Cela ◽  
Elion ◽  
Lobitz
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Geographical Distribution ◽  
Sickle Cell ◽  
Genetic Disorders ◽  
Next Generation ◽  
Special Issue ◽  
Cell Disease ◽  
The World

Sickle cell disease (SCD) is among the most common genetic disorders in the world, affectingover 300,000 newborns annually, with estimates for further increases to over 400,000 annual birthswithin the next generation and with a wider geographical distribution of affected individuals due toglobal migration [1,2]. [...]

scholarly journals Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Sonia Pajares ◽  
Jose Antonio Arranz ◽  
Aida Ormazabal ◽  
Mireia Del Toro ◽  
Ángeles García-Cazorla ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Clinical Symptoms ◽  
Screening Program ◽  
Genetic Disorders ◽  
Failure To Thrive ◽  
Propionic Acidemia ◽  
Screening Strategy ◽  
Vitamin B ◽  
Developmental Regression ◽  
Second Tier

Abstract Background Alteration of vitamin B12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and even irreversible neurologic damage. Therefore, early diagnosis and intervention is critical. Most of the neonatal cases with acquired vitamin B12 deficiency have been detected by clinical symptoms and only few of them trough NBS programs. We aim to assess the usefulness of the second-tier test: methylmalonic acid (MMA), methylcitric acid (MCA) and homocysteine (Hcys) in our newborn screening program and explore the implications on the detection of cobalamin (vitamin B12) related disorders, both genetic and acquired conditions. Methods A screening strategy using the usual primary markers followed by the analysis of MMA, MCA and Hcys as second tier-test in the first dried blood spot (DBS) was developed and evaluated. Results During the period 2015–2018 a total of 258,637 newborns were screened resulting in 130 newborns with acquired vitamin B12 deficiency (incidence 1:1989), 19 with genetic disorders (incidence 1:13,613) and 13 were false positive. No false negatives were notified. Concerning the second-tier test, the percentage of cases with MMA above the cut-off levels, both for genetic and acquired conditions was very similar (58% and 60%, respectively). Interestingly, the percentage of cases with increased levels of Hcys was higher in acquired conditions than in genetic disorders (87% and 47%, respectively). In contrast, MCA was high only in 5% of the acquired conditions versus in 53% of the genetic disorders, and it was always very high in all patients with propionic acidemia. Conclusions When screening for methylmalonic acidemia and homocystinuria, differential diagnosis with acquired vitamin B12 deficiency should be done. The results of our strategy support the inclusion of this acquired condition in the NBS programs, as it is easily detectable and allows the adoption of corrective measures to avoid the consequences of its deficiency.

Newborn screening: Need of the hour

2021 ◽  
Vol 36 ◽  
pp. 35-41
Author(s):  
Anil B. Jalan ◽  
Ketki V. Kudalkar
Keyword(s):  
Newborn Screening ◽  
Urban Areas ◽  
Genetic Disorders ◽  
Cost Effective ◽  
Severe Illness ◽  
Behavioral Abnormalities ◽  
Scholastic Backwardness ◽  
High Prevalence ◽  
High Incidence ◽  
Heart Abnormalities

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.

Screening for Treatable Disorders

PEDIATRICS ◽  
1993 ◽  
Vol 91 (4) ◽  
pp. 853-853
Author(s):  
GEORGIANNE ARNOLD
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Genetic Disorders ◽  
State Intervention ◽  
Screening Programs

To the Editor.— I wish to commend Dr Ellen Wright Clayton on her thoughtful commentary concerning issues in state newborn screening programs. The trauma of false-positive tests on families and the availability of a state-owned "DNA bank" consisting of newborn screening blotters are both issues which require consideration. I also share her grave concerns about society or state intervention in the rights of parents who carry genetic disorders to procreate. However, I take exception to the concept that parents should be allowed to choose whether or not their children will be screened for treatable disorders.

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