Development: The Molecular Genetic Approach

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These professionally regulated programatic efforts undoubtedly represent an important contribution to the development of clinical molecular genetic laboratory excellence. In contrast to these disease-specific PT programs in the US and Europe, an Italian group now reports the results of a more generic methods-based program to compare the quality of PCR amplification of genomic DNA performed by multiple laboratories In this issue, Raggi et al. Admirably, they monitored DNA extraction both quality and quantity , PCR performance specificity and efficiency , and electrophoresis results and interpretation, using valid quantitative measures to develop an overall score for each laboratory.

Taken at face value, if this evaluation reflects the overall quality of genetic testing in Europe, then approximately one of five laboratories has a problem, and that seems too high. Could there be other explanations for the rankings of poor performers? A review of a similar experience in the US program may shed some light.

Laboratories can choose any or all of three disease-specific groupings or modules.

Thus, although genetic testing in general, and molecular genetic testing in particular, is the target of much public and governmental scrutiny over laboratory quality and ethical concerns, it should be kept in mind that these applications represent only a small fraction of overall clinical laboratory activities and are undertaken only in specialized laboratories. The first official surveys in comprised challenges for cystic fibrosis, sickle cell disease, fragile X syndrome, and Duchenne muscular dystrophy. Given the effort it takes to develop programs, obtain mutant samples, and pilot test each new disease analyte, the menu of PT offerings will never equal or even approach the sum total of genetic diseases that can be tested at the molecular level, let alone the wide variety of mutations possible for each disease.

In part for this reason, and also to address some more generic technical issues, the committee included in its early mailings — a methods-based challenge similar to the one developed by Raggi et al.

Elevator pitch

As in their study, the CAP participants were sent a PCR primer set along with instructions for amplification conditions. The target chosen was a short tandem repeat polymorphism, and a simple linkage problem was constructed using several of the shipped specimens. This practice was soon abandoned, however, because of unsatisfactory performance, reports of PCR amplification failures and anomalies, and complaints from the survey participants. It may be too much to expect a laboratory to be challenged in a proficiency survey on an assay it has not validated or become comfortable with through years of experience.

Although we supplied the PCR primers and reaction conditions, many laboratories had trouble getting the expected amplification products and sizing them accurately, probably because of lack of optimization and familiarity. Regulatory guidelines under CLIA require that US laboratories participate in organized PT programs when available or, when not available, some equivalent activity such as informal sample exchanges with another laboratory for every analyte they test for, not for every method.

Moreover, poor performance on this sort of challenge does not necessarily indicate that the laboratory has poor quality or will perform poorly on real disease tests. For example, many PCR-based tests work adequately on crudely prepared, as opposed to high-purity, DNA; is it necessary or fair to require the testing laboratory to meet high standards of DNA purity as this challenge did?

All practitioners of clinical molecular genetics face the ongoing challenge of an ever-increasing number of analytes derived from disease-gene discovery under the impetus of the Human Genome Project. Regulatory and professional agencies are hard pressed to keep pace with these advances through their external quality assurance programs. Both options, the expansionist approach of proliferating individual disease challenges or the reductionist approach of generic methods-based challenges, offer their own advantages and disadvantages and place their own special stress on participating laboratories.

It is perhaps this last factor that we should be most mindful of, to ensure that whatever quality assurance programs we choose, they fairly assess performance of the target laboratories while not impeding their important work through unrealistic or irrelevant exercises. We applaud efforts such as that of Raggi et al. Through our shared experience, we envision the development of a powerful collaborative effort across continents in working toward our common goal, improving the quality of genetic testing. Skip to main content. Editorial Editorial.

Sue Richards , Wayne W.

Acknowledgments

DOI: Sue Richards. Acknowledgments Dr.

Sydney Brenner (1927 – 12222)

Cofee, M Analysis of schizophrenia susceptibility variants identified by GWAS : a bioinformatics and molecular genetics approach. De Jager, L Characterization of the mitochondrial genomes of Diuraphis noxia biotypes. Maduna, SN Genetic diversity and population genetic structure in the South African commercially important shark species, the common smoothhound Mustelus mustelus. Springfield, LS Pyramiding of rust resistance genes in wheat utilizing male sterility mediated marker-assisted recurrent selection.

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DNA cloning and recombinant DNA - Biomolecules - MCAT - Khan Academy

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Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions

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Loubser, D Molecular tagging of Thinopyrum distichum chromosomes involved in salt tolerance. Rhode, A Genetiese verenigbaarheid tussen taksonomiese verwante spesies van die genus Leucadendron. Slabbert, R Molecular analysis of genetic variation and relationships within the population of abalone Haliotis midae at the Sea Plant Products abalone hatchery. Christians, GE Identification of molecular markers linked to woolly apple aphid Eriosoma lanigerum Hausmann resistance in apple.

Molecular Genetics and Genomics - Springer

Koegelenberg, AJ Molecular epidemiological study of variegate porphyria VP to determine the frequency of the founder gene mutation. Robson, J The construction of an expression vector for the transformation of the grape chloroplast genome. Vorster, G A quantitative genetic analysis of the effect of cross breeding on the growth rate of the South African abalone Haliotis midae. Fakulteite My.


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