scholarly journals Guidelines for genetic testing of healthy adults who deposit samples and related data in bioresource collections and biobanks

2022 ◽  
Vol 20 (8) ◽  
pp. 3120
Author(s):  
E. E. Baranova ◽  
Ksenia Dmitrievna Fedulova ◽  
A. S. Glotov ◽  
V. L. Izhevskaya
Keyword(s):  
Genetic Testing ◽  
Personal Data ◽  
Joint Analysis ◽  
Carrier Status ◽  
Inherited Disease ◽  
Healthy Individuals ◽  
Tissue Samples ◽  
Multifactorial Diseases ◽  
Related Data ◽  
Presymptomatic Stage

Currently, a significant part of research in the fields of human and medical genetics is carried out using tissue samples, genealogical, population, medical and personal data. Their use is of particular relevance in the “genome era”, since only joint analysis of genomic data and health status of the population is crucial for understanding how genes are associated with health and disease. Genetic studies of adults without symptoms of diseases are carried out to obtain data on a possible predisposition to multifactorial diseases, to establish the carrier status of autosomal recessive mutations as part of preconception care and to assess individual sensitivity to drugs. In addition, healthy individuals can be tested to detect an inherited disease at presymptomatic stage. This situation increasingly emphasizes the importance of storing data on genome sequencing or any other patient tests for subsequent data reanalysis, as well as their safety, including biosamples from an individual and one’s family. The review article, based on international experience, summarizes guidelines for genetic testing of healthy individuals. The options for storing biological samples and related data are considered.

scholarly journals An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Masahiro Inoue ◽  
Shota Arichi ◽  
Tsuyoshi Hachiya ◽  
Anna Ohtera ◽  
Seok-Won Kim ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Translational Research ◽  
Drug Target ◽  
Target Genes ◽  
Healthy Individuals ◽  
Alcohol Sensitivity ◽  
Direct To Consumer ◽  
Disease States ◽  
Multiple Phenotypes ◽  
Related Phenotype

Abstract Objective In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined possibility of these data by associating SNPs and disease related phenotype information collected from healthy individuals. Results A total of 12,598 saliva samples were collected from the customers of commercial service for SNPs analysis and web survey were conducted to collect phenotype information. The collected dataset revealed similarity to the Japanese data but distinguished differences to other populations of all dataset of the 1000 Genomes Project. After confirmation of a well-known relationship between ALDH2 and alcohol-sensitivity, Phenome-Wide Association Study (PheWAS) was performed to find association between pre-selected drug target genes and all the phenotypes. Association was found between GRIN2B and multiple phenotypes related to depression, which is considered reliable based on previous reports on the biological function of GRIN2B protein and its relationship with depression. These results suggest possibility of using SNPs and phenotype information collected from healthy individuals as a translational research tool for drug discovery to find relationship between a gene and a disease if it is possible to extract individuals in pre-disease states by properly designed questionnaire.

Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth

2021 ◽  
Author(s):  
Cuiting Peng ◽  
Jun Ren ◽  
Yutong Li ◽  
Yuezhi Keqie ◽  
Fan Zhou ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Live Birth ◽  
Inherited Disease ◽  
Preimplantation Genetic Testing

Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?

1995 ◽  
Vol 23 (2) ◽  
pp. 167-172 ◽  
Author(s):  
Joseph S. Alper
Keyword(s):  
Americans With Disabilities Act ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Discrimination ◽  
Healthy Individuals ◽  
Multifactorial Diseases ◽  
Total Incidence ◽  
Single Gene Disorders ◽  
Near Future ◽  
The U.S

As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.

Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease.

1988 ◽  
Vol 34 (9) ◽  
pp. 1937-1941 ◽  
Author(s):  
J D Macfarlane ◽  
B J Poorthuis ◽  
J J van de Kamp ◽  
R G Russell ◽  
A M Caswell
Keyword(s):  
Alkaline Phosphatase ◽  
Urinary Excretion ◽  
Carrier Status ◽  
Inherited Disease ◽  
Biochemical Screening ◽  
Inorganic Pyrophosphate ◽  
Clinically Normal ◽  
Measured Activity ◽  
Normal Adults ◽  
Biochemical Abnormalities

Abstract Hypophosphatasia is an inherited disease in which a deficiency of the bone/liver/kidney or tissue nonspecific isoenzyme of alkaline phosphatase (AP; EC 3.1.3.1) occurs. All forms of the disease are characterized clinically by defective mineralization. Several biochemical abnormalities are associated with the deficiency of AP activity, e.g., increased urinary excretion of inorganic pyrophosphate (PPi) and phosphoethanolamine (PEA). Measurement of these analytes in kindreds of patients with hypophosphatasia may be useful in identifying carriers, and in understanding the inheritance of the disease. We studied biochemically 22 members of the kindred of a 24-year-old woman with hypophosphatasia. We measured activity of AP in serum and leukocytes, and the urinary excretion of PPi and PEA. Within this kindred, urinary excretion of PPi appeared to indicate carrier status, and among the clinically normal adults, values for this analyte were inversely correlated with the activity of AP in serum. These results suggest that urinary excretion of PPi is sensitive to subtle changes in the activity of AP.

scholarly journals Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report

2018 ◽  
Vol 6 ◽  
pp. 2050313X1877212 ◽  
Author(s):  
James Kiberd ◽  
Laura Finlayson
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Laboratory Investigation ◽  
Pediatric Population ◽  
Dorsal Surface ◽  
Sun Exposure ◽  
Inherited Disease ◽  
Erythropoietic Protoporphyria ◽  
Photosensitivity Reaction ◽  
Delayed Reactions

Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria. We present the case of a four-year-old boy with a delayed photosensitivity reaction to sunlight. In the evening following sun exposure, he would develop swelling and a violaceous rash on the dorsal surface of his hands and occasionally the helix of his ears. His reactions were severe, requiring morphine on more than one occasion prior to diagnosis. He later developed waxy depressed scars on his nose and cheeks. On laboratory investigation, both total and free protoporphyrin were elevated. Photosensitivity in EPP usually occurs minutes after sun exposure, but our patient had significantly delayed reactions. Genetic testing revealed mutation in the FECH gene that confirmed the diagnosis of EPP. Although rare, presentations of photosensitivity in the pediatric population should be carefully evaluated.

scholarly journals Early Events of Citrus Greening (Huanglongbing) Disease Development at the Ultrastructural Level

2010 ◽  
Vol 100 (9) ◽  
pp. 949-958 ◽  
Author(s):  
Svetlana Y. Folimonova ◽  
Diann S. Achor
Keyword(s):  
Middle Lamella ◽  
Ultrastructural Level ◽  
Citrus Greening ◽  
Ultrastructural Changes ◽  
Bacterial Cells ◽  
Tissue Samples ◽  
Large Numbers ◽  
Presymptomatic Stage ◽  
Candidatus Liberibacter ◽  
Advanced Stages

Citrus greening (Huanglongbing [HLB]) is one of the most destructive diseases of citrus worldwide. The causal agent of HLB in Florida is thought to be ‘Candidatus Liberibacter asiaticus’. Understanding of the early events in HLB infection is critical for the development of effective measures to control the disease. In this work, we conducted cytopathological studies by following the development of the disease in citrus trees graft inoculated with ‘Ca. L. asiaticus’-containing material under greenhouse conditions to examine the correlation between ultrastructural changes and symptom production, with the main objective of characterizing the early events of infection. Based on our observations, one of the first degenerative changes induced upon invasion of the pathogen appears to be swelling of middle lamella between cell walls surrounding sieve elements. This anatomical aberration was often observed in samples from newly growing flushes in inoculated sweet orange and grapefruit trees at the early “presymptomatic” stage of HLB infection. Development of symptoms and their progression correlated with an increasing degree of microscopic aberrations. Remarkably, the ability to observe the bacterium in the infected tissue also correlated with the degree of the disease progression. Large numbers of bacterial cells were found in phloem sieve tubes in tissue samples from presymptomatic young flushes. In contrast, we did not observe the bacteria in highly symptomatic leaf samples, suggesting a possibility that, at more advanced stages of the disease, a major proportion of ‘Ca. L. asiaticus’ is present in a nonviable state. We trust that observations reported here advance our understanding of how ‘Ca. L. asiaticus’ causes disease. Furthermore, they may be an important aid in answering a question: when and where within an infected tree the tissue serves as a better inoculum source for acquisition and transmission of the bacterium by its psyllid vector.

scholarly journals Perceptions About Genetic Testing for the Susceptibility to Alcohol Dependence and Other Multifactorial Diseases

2012 ◽  
Vol 16 (6) ◽  
pp. 476-481 ◽  
Author(s):  
Vanessa J. Marshall ◽  
Nnenna Kalu ◽  
John Kwagyan ◽  
Carla Williams ◽  
Robert E. Taylor ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Alcohol Dependence ◽  
Multifactorial Diseases

scholarly journals Thalassaemia Prevention: Bangladesh Perspective - A Current Update

2017 ◽  
Vol 40 (1) ◽  
pp. 31-38 ◽  
Author(s):  
Sarabon Tahura ◽  
Md Selimuzzaman ◽  
Waqar Ahmed Khan
Keyword(s):  
Ethical Issues ◽  
Public Awareness ◽  
Autosomal Recessive Disorder ◽  
Prevention Programs ◽  
Hereditary Disease ◽  
World Health ◽  
Cultural Tradition ◽  
Carrier Status ◽  
Inherited Disease ◽  
Hb E

Thalassaemias are a group of autosomal recessive disorder and the most common inherited disease worldwide with a wide geographical variation in incidence. Bangladesh, a developing country, having a population over 160 million. World Health Organization (WHO) has estimated that 3% of our population carries ?- thalassaemia and 4% of population carries Hb-E in Bangladesh. But recently Khan WA showed that carrier status of Hb-E is 6.1% and as high as 41.7% in tribal school children in Bangladesh. Since Thalassaemia is a severe and incurable disease, it is only manageable when it is prevented. The WHO has advocated and promoted the programs for thalassaemia prevention from the early 1970s. Several countries have already set up comprehensive national thalassaemia prevention programs but in our country most of the population is unware of this hereditary disease. The rapidly growing number of children diagnosed as thalassaemia in Bangladesh clearly indicate that thalassaemia will be a emerging health burden for our country. So, we need to prevent thalassaemia before it’s too late by comprehensive national integrated prevention programs which include public awareness and education, carrier screening, genetic counseling, premarital screening and prenatal diagnosis. Thalassaemia prevention program has become a community concern as it affects marriage practices and reproduction. So, ethical issues need to be addressed for proper implementation of this by government policy, central control and co-ordination according to the local structures, social values, religious laws and cultural tradition of our country.Bangladesh J Child Health 2016; VOL 40 (1) :31-38

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