The Financial Impact of Genetic Diseases in a Pediatric Accountable Care Organization

Miller, Katherine E.; Hoyt, Richard; Rust, Steve; Doerschuk, Rachel; Huang, Yungui; Lin, Simon

doi:10.3389/fpubh.2020.00058

Cited by 16 publications

(10 citation statements)

References 27 publications

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“…CM has been found to be related to increased risks of haemoglobinopathies, intellectual disabilities, congenital glaucoma, ciliopathies, disorders related to inborn errors of metabolism, retinal dystrophies, hearing loss, primary microcephaly, and familial hypercholesterolaemia [ 24 , 25 , 26 , 27 ]. Such health issues and diseases resulting from CM can negatively impact the economy and the healthcare system [ 15 , 28 ]. Given that the practice of CM among the Saudi population has maintained a high prevalence among different cities in Saudi Arabia over time, and clear evidence associating this type of marriage with several hereditary diseases and health issues, there is an urgent need for immediate interventions.…”

Section: Discussionmentioning

confidence: 99%

“…The occurrence of NCDs with a high incidence rate among a population affects both public health and the healthcare system by affecting individuals’ productivity and increasing their absenteeism due to the disease itself and/or its consequences, such as emotional wellbeing or increasing the caregiver burden. Studies indicate that more than one-third of the healthcare system’s resources is spent on patients with genetic, chromosomal, or congenital disorders [ 13 , 14 , 15 , 16 , 17 ]. Consequences resulting from the increase in the number of individuals with lifetime health issues contradict the public health recommendation (No.…”

Section: Introductionmentioning

confidence: 99%

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Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study

Albanghali

2023

IJERPH

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Consanguineous marriage (CM) is a prevalent kind of relationship in Muslim and Arab countries, and this type of relationship is linked to several health risks. This study was conducted to determine the prevalence of (CM), its associated hereditary diseases, and health-related issues among Saudi citizens in Albaha. This cross-sectional study was conducted between March 2021 to April 2021. Saudi citizens in Albaha who were aged ≥ 18 years and willing to participate were eligible for the study. A total of 1010 participants were included in this study. In total, 757 participants were married, widowed, or divorced. CM partnerships comprised 40% (N = 302) of the marriages among participants, of which first- and second-cousin marriages comprised 72% and 28%, respectively. The prevalence of CM among the participants’ parents was lower than that among the participants (31% versus 40%, respectively). Children of participants in a CM were more likely to have cardiovascular diseases (p < 0.001), blood diseases (anaemia, thalassemia) (p < 0.001), cancer (p = 0.046), hearing loss and speech disorder (p = 0.003), and ophthalmic diseases (p = 0.037). Albaha showed a high percentage of consanguinity. An educational program must be established to enhance the population’s knowledge of the consequences of CM. The current national premarital screening program should be extended to involve more screening tests for common hereditary diseases that result from CM.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study

Albanghali

2023

IJERPH

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“…Miller et al reported that the average hospitalization is comparatively higher among patients with genetic disorders as compared with patients with nongenetic conditions (5.3 vs. 1.6). 11 Further, Miller et al showed that half of the healthcare claims in the United States were for monogenic disorders, costing millions of dollars. In India, genetic disorders are not covered under insurance and extravagant costs of genetic testing are extremely difficult to be borne by an average earning Indian.…”

Section: Discussionmentioning

confidence: 99%

Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation

et al. 2020

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Alport's syndrome (AS) is a rare disorder characterized by a triad of deafness, progressive renal dysfunction, and ocular abnormalities. We present a patient of early onset AS with a novel frameshift pathogenic variant in the COL4A5 gene and discuss the utility of genetic testing in the family as well as for the transplant recipient. The patient was a 17-year-old boy with end-stage renal disease (ESRD) and hearing loss. In the setting of ESRD, since hearing loss and anterior lenticonus was detected on an ophthalmologic exam, AS was suspected. On genetic testing, a novel hemizygous frameshift variant was identified in the COL4A5 gene (c.1392del (p.Asp464GlufsTer10)), which was also segregated in the family. In this report, we will discuss the early severe presentation, typical ocular findings, genotype–phenotype correlation, and implications of genetic testing for renal transplant. We will also explore the challenges of genetic testing in developing countries and the potential of pharmacogenomics.

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“…Treatment of infectious diseases is a major priority in global health 1 . However, inherited genetic diseases also cause significant burden on health care 2 and therapies to treat them are receiving renewed attention 3 . For the management of genetic disorders that co-evolved with pathogens, it is imperative that new treatments also reduce associated infections, but criteria needed for their evaluation are not well established.…”

Section: Introductionmentioning

confidence: 99%

Simultaneous adjunctive treatment of malaria and its co-evolved genetic disorder sickle cell anaemia

Safeukui

Ware

Mohandas

et al. 2022

Preprint

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Effective treatments for genetic disorders that co-evolved with pathogens require simultaneous betterment of both conditions. Hydroxyurea (HU) offers safe and efficacious treatment for sickle cell anemia (SCA) by reducing clinical complications, transfusions, and death. Despite concerns that HU-treatment for SCA would increase infection risk by the human malaria Plasmodium falciparum, (the genetic driver of the sickle mutation), HU instead reduced clinical malaria. We show that at physiologically relevant exposures, HU (and other ribonucleotide reductase inhibitors) have significant, intrinsic killing activity in vitro against blood stages of P. falciparum, with low risk of eliciting stably resistant parasites or compromising potency of current antimalarial drugs. Additive activity devoid of antagonism by HU was observed with a wide spectrum of commonly used antimalarial treatments. These data endorse broad, safe, long-term use of HU for SCA in malaria endemic countries and provide a novel biological model for simultaneous, adjunct therapy of a life-threatening infection and concomitant management of a co-evolved genetic disorder.

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The Financial Impact of Genetic Diseases in a Pediatric Accountable Care Organization

Cited by 16 publications

References 27 publications

Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study

Prevalence of Consanguineous Marriage among Saudi Citizens of Albaha, a Cross-Sectional Study

Implications of a Genetic Etiology for Renal Transplant: Early-Onset Alport Syndrome with a Novel Mutation

Simultaneous adjunctive treatment of malaria and its co-evolved genetic disorder sickle cell anaemia

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