scholarly journals The diagnostic trajectory of infants and children with clinical features of genetic disease

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Brock E. Schroeder ◽  
Nina Gonzaludo ◽  
Katie Everson ◽  
Kyi-Sin Than ◽  
Jeff Sullivan ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Features ◽  
Genetic Disease ◽  
Pediatric Patients ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Cost Of Care ◽  
Clinical Indicators ◽  
Utilization Of Services ◽  
Number Of Patients

AbstractWe characterized US pediatric patients with clinical indicators of genetic diseases, focusing on the burden of disease, utilization of genetic testing, and cost of care. Curated lists of diagnosis, procedure, and billing codes were used to identify patients with clinical indicators of genetic disease in healthcare claims from Optum’s de-identified Clinformatics® Database (13,076,038 unique patients). Distinct cohorts were defined to represent permissive and conservative estimates of the number of patients. Clinical phenotypes suggestive of genetic diseases were observed in up to 9.4% of pediatric patients and up to 44.7% of critically-ill infants. Compared with controls, patients with indicators of genetic diseases had higher utilization of services (e.g., mean NICU length of stay of 31.6d in a cohort defined by multiple congenital anomalies or neurological presentations compared with 10.1d for patients in the control population (P < 0.001)) and higher overall costs. Very few patients received any genetic testing (4.2–8.4% depending on cohort criteria). These results highlight the substantial proportion of the population with clinical features associated with genetic disorders and underutilization of genetic testing in these populations.

Genetic Disorders in the Fetus from Diagnosis to Treatment

2020 ◽  
Author(s):  
Tayebeh Rabaninia ◽  
Nooshin Amjadi
Keyword(s):  
Mental Illness ◽  
Heart Disease ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Disease ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Medical Knowledge ◽  
Gene Mutations ◽  
Prevention Of Disability

Background: Today there are many diseases that genetics contributes to these, including diabetes, hypertension, cancer, heart disease, various types of cancers and even mental illness, and by the advancement of medical knowledge The number of genetic diseases is increasing now. most people think about genetic diseases as inherited diseases, which are mostly caused by gene mutations and other genetically inherited factors. Most of the genetic disorders currently do not have 100% treatment, and the only way is to preventing the prevalence of them before marriage.   Methods: Eligible articles were identified by search of databases including NCBI, PubMed, ISI Web of Knowledge and Google scholar up to July 2017.   Results: In the field of prevention of disability and genetic disorders, many members who are at risk of genetic disease should have genetic counseling to get useful information about it. Without genetic counseling, genetic testing is meaningless, as people do not go to the laboratory without a doctor's visit; Genetic counselors won’t be able to stop people from getting married, but they provide solutions to prevent them from possible disorders.   Conclusions: This study provides information on genetic diseases and prevents them in newborns and suggests new solutions for the treatment of these diseases.

scholarly journals Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing

2020 ◽  
Author(s):  
Theodore J Morley ◽  
Lide Han ◽  
Jonathan Morra ◽  
Nancy J Cox ◽  
Lisa Bastarache ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Data ◽  
Genetic Disease ◽  
Genetic Test ◽  
Genetic Diseases ◽  
Copy Number Variant ◽  
Test Sample ◽  
Chromosomal Microarray ◽  
Quickest Path ◽  
Organ Systems

Around five percent of the population is affected by a rare disease, most often due to genetic variation. A genetic test is the quickest path to a diagnosis, yet most suffer through years of diagnostic odyssey before getting a test, if they receive one at all. Identifying patients that are likely to have a genetic disease and therefore need genetic testing is paramount to improving diagnosis and treatment. While there are thousands of previously described genetic diseases with specific phenotypic presentations, a common feature among them is the presence of multiple rare phenotypes which often span organ systems. Here, we hypothesize that these patients can be identified from longitudinal clinical data in the electronic health record (EHR). We used diagnostic information from the EHRs of 2,286 patients that received a chromosomal microarray and 9,144 matched controls to train and test a prediction model. We identified high prediction accuracy (AUROC = 0.97, AUPR = 0.92) in a held-out test sample and in 172,265 hospital patients where cases were defined broadly as interacting with a genetics provider (AUROC = 0.9, AUPR = 0.63). High probabilities (median = 0.97) were associated with 46 patients carrying a known pathogenic copy number variant (CNV) among a subset of 6,445 genotyped patients. Our model identified many more patients needing a genetic test while increasing the proportion having a putative genetic disease compared to the current nonsytematic approach. Taken together, we demonstrate that phenotypic patterns representative of a genetic disease can be captured from EHR data and provide an opportunity to systematize decision making on genetic testing to speed up diagnosis, improve care, and reduce costs.

scholarly journals Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

2021 ◽  
Author(s):  
Andrew P. Landstrom ◽  
Jeffrey J. Kim ◽  
Bruce D. Gelb ◽  
Benjamin M. Helm ◽  
Prince J. Kannankeril ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Best Practices ◽  
Pediatric Patients ◽  
American Heart ◽  
Genetic Diseases ◽  
Heart Association ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Great Vessels ◽  
Scientific Statement

Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.

scholarly journals Do fair and just systems require compensation for the disadvantages of the natural lottery? a discussion on society's duties on the provision of gene therapy

2019 ◽  
Vol 22 (1) ◽  
pp. 69-74
Author(s):  
PE Ekmekci ◽  
MD Güner
Keyword(s):  
Gene Therapy ◽  
Genetic Disease ◽  
Equal Opportunity ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Medical Science ◽  
Main Question ◽  
Treatment Needs ◽  
Gene Therapies ◽  
Recent Advances

AbstractGenetic diseases have been thought to be acquired as a result of sheer bad luck. However, recent advances in medical science have demonstrated the mechanisms of genetic disorders, which enable us to intervene with their occurrence and treatment. Today, gene therapy, once considered too risky, has become safer and can save the lives of patients with previously untreatable and lethal genetic diseases. However, the positive expectations from gene therapy are overshadowed by their extremely high prices. Thus, the duty of society in the provision of gene therapies has been frequently discussed. The discussions mainly focus on how to meet the genetic treatment needs of patients without violating the notion of justice and fairness in society. This study discusses the theoretical grounds for society's duty to compensate for genetic disease patients' disadvantages by providing them with appropriate genetic treatment. The main question is whether a fair and just system requires society to provide available lifesaving gene therapy to patients in need. The discussion is constructed on the crucial notion of the fair equal opportunity principle in a just system and the plausibility of including disadvantages emerging from bad luck in the natural lottery in the domain of justice.

Clinical features and approach to treatment in pediatric patients with McCune-Albright syndrome: monocentric experience

2019 ◽  
Author(s):  
Nadezhda Makazan ◽  
Elizaveta Orlova ◽  
Maria Kareva ◽  
Anna Kolodkina ◽  
Natalia Kalinchenko ◽  
...  
Keyword(s):  
Clinical Features ◽  
Pediatric Patients ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

scholarly journals The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Graeme C. Black ◽  
◽  
Panagiotis Sergouniotis ◽  
Andrea Sodi ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Rare Diseases ◽  
Eye Diseases ◽  
Reference Network ◽  
Genomic Testing ◽  
Main Body ◽  
National Plan ◽  
Member States ◽  
Technological Advances ◽  
Number Of Patients

Abstract Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

scholarly journals AB0713 EVALUATION OF THE EFFECTIVENESS OF LASER THERAPY IN THE TREATMENT OF RHEUMATOID ARTHRITIS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1388.1-1388
Author(s):  
N. Zhuravleva ◽  
L. Karzakova ◽  
S. Kudryashov ◽  
E. Petrova
Keyword(s):  
Rheumatoid Arthritis ◽  
Laser Therapy ◽  
Medical Therapy ◽  
Joint Pain ◽  
Morning Stiffness ◽  
Activity Index ◽  
Clinical Indicators ◽  
On Demand ◽  
Number Of Patients ◽  
Basic Medical

Background:Despite the fact that the introduction of biological disease-modifying antirheumatic medicines (bDMARDs) and the early start of treatment for rheumatoid arthritis (RA) can effectively stop the inflammatory process in RA, a fairly large number of patients continue to experience joint pain [1]. It is assumed that in some cases, joint pain in patients with RA is not associated with the inflammation, so it requires consideration of the possibility of using alternative strategies for the treatment of RA.Objectives:The aim of the research is to study the effectiveness of laser therapy in the treatment of RA.Methods:114 patients with RA aged from 32 to 53 years have been monitored for 6 months. There were 82 women (71.9 %) and 32 men (28.1%) among them. The patients were randomly divided into 2 groups. The first group of patients (57 people) received basic medical therapy with methotrexate 15 mg intramuscularly once a week and nonsteroidal anti-inflammatory medicines (NSAIDs) on demand. The dose of methotrexate was selected taking into account the disease activity index DAS 28. The second group of patients (57 people) received basic medical therapy with methotrexate 15 mg intramuscularly once a week and NSAIDs on demand. In addition, the cutaneous low-intensity laser irradiation of the joints was added along the projection of the joint gap in a pulse mode with a wavelength of 0.89 microns. The pulse frequency is 80-1500 Hz, the pulse power is 5 W, the exposure time in the field is 1-2 minutes and the total radiation time per session is no more than 10 minutes [2]. The course of treatment consisted of 10 procedures (the device “Milta F-8 RD”, Russia, Moscow). The course of laser therapy was repeated after 4 weeks. To assess clinical indicators, patients were examined using the SF-36 questionnaire before treatment and 6 months after the start of treatment.Results:The survey after 6 months revealed the significant decrease in the severity of pain on the VAS from the initial average indicator 4.5±0.2 to 3.69±0.2 points (p<0.01) and morning stiffness from 60±5 to 40.8±4 minutes (p<0.01). In the first group, the dynamics of clinical indicators were not statistically significant: the intensity of pain decreased from 4.6±0.2 to 4.2±0.3 points (p>0.05) and the duration of morning stiffness reduced from 62±7 to 58.6±6 minutes (p>0.05). In the second group the decrease in the need for NSAIDs was observed in 21 patients, while in the first group the same was observed only in 10 patients (px2 = 0.020).Conclusion:Laser therapy in the treatment of patients with RA enabled to decrease the frequency of the need for NSAIDs and reduce morning stiffness. We recommend using laser therapy in patients with RA at the second radiological stage as an addition to basic therapy.References:[1]Altawil R et al. Arthritis Care Res (Hoboken). 2016; 68(8): 1061-1068.[2]Burger M et al. Physiother Theory Pract. 2017; 33(3): 184-197.Disclosure of Interests:None declared

scholarly journals First French study relative to preconception genetic testing: 1500 general population participants’ opinion

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Valérie Bonneau ◽  
Mathilde Nizon ◽  
Xenia Latypova ◽  
Aurélie Gaultier ◽  
Eugénie Hoarau ◽  
...  
Keyword(s):  
Genetic Testing ◽  
General Population ◽  
Social Security ◽  
Genetic Disease ◽  
Ethical Issues ◽  
Family Doctor ◽  
Screening Strategy ◽  
Medical Prescription ◽  
Medical Progress ◽  
Increased Risk

Abstract Background Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire. Results Among the 1568 participants, 91% are favorable to preconception genetic tests and 57% declare to be willing to have the screening if the latter is available. A medical prescription by a family doctor or a gynecologist would be the best way to propose the test for 73%, with a reimbursement from the social security insurance. However, 19% declare not to be willing to use the test because of their ethic or moral convictions, and the fear that the outcome would question the pregnancy. Otherwise, most participants consider that the test is a medical progress despite the risk of an increased medicalization of the pregnancy. Conclusion This first study in France highlights a global favorable opinion for the preconception genetic carrier testing under a medical prescription and a reimbursement by social security insurance. Our results emphasize as well the complex concerns underpinned by the use of this screening strategy. Therefore, the ethical issues related to these tests include the risk of eugenic drift mentioned by more than half of the participants.

High prevalence of familial and genetic disease in children with cardiomyopathies: baseline paediatric data from the ESC EORP Cardiomyopathy and Myocarditis registry

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
J.P Kaski ◽  
A.G Maggioni ◽  
P Charron ◽  
P.M Elliott ◽  
J.R Gimeno ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Disease ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Neuromuscular Disorders ◽  
High Yield ◽  
Causative Mutation ◽  
Inborn Errors ◽  
Male Predominance ◽  
Familial Disease ◽  
Significant Difference

Abstract Background Previous studies on paediatric cardiomyopathies have provided useful information on their epidemiology and clinical presentation but have been limited by a lack of detailed data on genetic testing and aetiology. Purpose The purpose of this study was to examine the frequency of familial and genetic disease among children with cardiomyopathy enrolled in the European Society of Cardiology (ESC) Cardiomyopathy and Myocarditis EORP Long-Term Registry (CMY-LT). Methods 633 individuals aged &lt;18 years with hypertrophic cardiomyopathy [HCM; n=387 (61%)], dilated cardiomyopathy (DCM; n=205 (33%)], restrictive cardiomyopathy [RCM; n=28 (4%)] and arrhythmogenic right ventricular cardiomyopathy [ARVC; n=11 (2%)] were enrolled by 26 centres from 14 countries. Mean age at diagnosis was 5.2 (±5.4) years and there was a male predominance [n=372 (59%)] across all cardiomyopathy subtypes, with the exception of DCM in those diagnosed &lt;10 years of age (p=0.005). 541 (87%) were probands compared to 83 (13%) first-degree relatives. Results Overall, 253 patients (47% of those reported) had familial disease; in those diagnosed between 10 and 18 years of age, familial disease was most frequent in HCM and least frequent in DCM [57 (55%) vs 12 (32%); p=0.046]. Genetic testing was performed in 414 (68%) patients. In those diagnosed &lt;10 years, genetic testing was more frequently performed in HCM [128 (67%) vs 33 (37%) in DCM, 10 (56%) in RCM and 1 (50%) in ARVC; p=0.008]; in those aged 10–18, genetic testing was most frequent in ARVC [n=8 (89%)] followed by HCM [n=81 (69%)], RCM [n=1 (50%)] and DCM [n=22 (46%); p=0.007]. A causative mutation was reported in 250 patients (60%), with a higher yield in those aged 10–18 vs &lt;10 years [77 (69%) vs 172 (57%), p=0.032]. In those &lt;10 years, the prevalence of reported causative mutations was highest in HCM [128 (67%) vs 10 (56%) in RCM, 1 (50%) in ARVC and 33 (37%) in DCM; p&lt;0.001]; in those 10–18 years, there was no significant difference in prevalence of reported causative variants between cardiomyopathy subtypes. Rare disease phenocopies were reported in 171 patients (27%): malformation syndromes [n=75 (12%)]; neuromuscular disorders [n=49 (8%)]; inborn errors of metabolism [n=20 (3%)]; mitochondrial [n=18 (3%)]; and chromosomal [n=15 (2%)]. Phenocopies were reported most frequently in patients &lt;10 years [135 (30%) vs 35 (20%) in those aged 10–18 years; p=0.008], particularly in HCM in those &lt;10 years [n=110 (41%); p&lt;0.001 vs other subtypes] and DCM in those aged 10–18 years [n=18 (38%); p=0.03 vs other subtypes]. Conclusion This study confirms the heterogeneous aetiology of childhood cardiomyopathies and demonstrate a higher prevalence of familial disease than previously reported in paediatric populations. Genetic testing is performed in a high proportion of patients, with a high yield of reported causative variants. Funding Acknowledgement Type of funding source: None

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