From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review
Introduction: The scope and need for genomic testing have rapidly expanded with advances in genomic technologies since mapping of the Human Genome Sequence under the largest biological initiative, the Human Genome Project. There are now more than 7000 rare genetic disorders and more are being discov...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2023-01-01
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| Series: | Apollo Medicine |
| Subjects: | |
| Online Access: | http://www.apollomedicine.org/article.asp?issn=0976-0016;year=2023;volume=20;issue=2;spage=123;epage=128;aulast=Gupta |
| _version_ | 1797824516192206848 |
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| author | Ambika Gupta Divya Agarwal Kriti Menon |
| author_facet | Ambika Gupta Divya Agarwal Kriti Menon |
| author_sort | Ambika Gupta |
| collection | DOAJ |
| description | Introduction: The scope and need for genomic testing have rapidly expanded with advances in genomic technologies since mapping of the Human Genome Sequence under the largest biological initiative, the Human Genome Project. There are now more than 7000 rare genetic disorders and more are being discovered every day. No body system is exempt from a genetic aberration. It is therefore imperative and inevitable for the clinicians to be aware of the plethora of available genetic testing modalities for different types of disorders. The modern clinician is now responsible to inform and assist the patient and the family with the choice of the most relevant genetic testing. This is crucial since genetic testing involves a fair degree of time and money. The present review sheds light on the utility and limitations of different genetic testing modalities using a series of clinical examples. Conclusion: Proper clinical evaluation and selection of an appropriate test are of paramount importance in clinical genetic practice. The clinician, patient, and the family need to be cognizant of the fact that despite extensive testing, the diagnosis may still remain undetermined. |
| first_indexed | 2024-03-13T10:39:06Z |
| format | Article |
| id | doaj.art-7ea1199877a548c4836037e0c4c7ae24 |
| institution | Directory Open Access Journal |
| issn | 0976-0016 2213-3682 |
| language | English |
| last_indexed | 2024-03-13T10:39:06Z |
| publishDate | 2023-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Apollo Medicine |
| spelling | doaj.art-7ea1199877a548c4836037e0c4c7ae242023-05-18T04:59:19ZengWolters Kluwer Medknow PublicationsApollo Medicine0976-00162213-36822023-01-0120212312810.4103/am.am_61_23From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated reviewAmbika GuptaDivya AgarwalKriti MenonIntroduction: The scope and need for genomic testing have rapidly expanded with advances in genomic technologies since mapping of the Human Genome Sequence under the largest biological initiative, the Human Genome Project. There are now more than 7000 rare genetic disorders and more are being discovered every day. No body system is exempt from a genetic aberration. It is therefore imperative and inevitable for the clinicians to be aware of the plethora of available genetic testing modalities for different types of disorders. The modern clinician is now responsible to inform and assist the patient and the family with the choice of the most relevant genetic testing. This is crucial since genetic testing involves a fair degree of time and money. The present review sheds light on the utility and limitations of different genetic testing modalities using a series of clinical examples. Conclusion: Proper clinical evaluation and selection of an appropriate test are of paramount importance in clinical genetic practice. The clinician, patient, and the family need to be cognizant of the fact that despite extensive testing, the diagnosis may still remain undetermined.http://www.apollomedicine.org/article.asp?issn=0976-0016;year=2023;volume=20;issue=2;spage=123;epage=128;aulast=Guptachromosomal microarrayvariant of uncertain significancewhole exome sequencing |
| spellingShingle | Ambika Gupta Divya Agarwal Kriti Menon From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review Apollo Medicine chromosomal microarray variant of uncertain significance whole exome sequencing |
| title | From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review |
| title_full | From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review |
| title_fullStr | From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review |
| title_full_unstemmed | From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review |
| title_short | From genetic laboratory to the genetic clinic – Opportunities and challenges: An illustrated review |
| title_sort | from genetic laboratory to the genetic clinic opportunities and challenges an illustrated review |
| topic | chromosomal microarray variant of uncertain significance whole exome sequencing |
| url | http://www.apollomedicine.org/article.asp?issn=0976-0016;year=2023;volume=20;issue=2;spage=123;epage=128;aulast=Gupta |
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