China
Africa
Explore chapters and articles related to this topic
Current trends in sexual assault medical forensic exams and examiners
Published in Rachel E. Lovell, Jennifer Langhinrichsen-Rohling, Sexual Assault Kits and Reforming the Response to Rape, 2023
Julie L. Valentine, Nancy R. Downing
The ability to develop probative DNA analysis findings is also dependent upon the type of DNA analysis methods employed by publicly funded crime laboratories. Crime laboratories conduct short-tandem repeat (STR) DNA tests, as this is the current standard DNA testing method that develops DNA profiles that could be admissible into the Federal Bureau of Investigations (FBI) Combined DNA Index System (CODIS) (Federal Bureau of Investigation, n.d.). Some crime laboratories also use STR testing methods specific to the Y-chromosome or male chromosome, referred to as Y-STR tests. Y-STR analysis can potentially develop helpful DNA information when less biologic material is available than is needed for traditional STR analysis in sexual assault cases (Purps et al., 2015). Y-STR profiles are not as discriminating as traditional STR testing methods but can aid in identifying families through the male lineage. For more information on forensic testing of SAKs when they get to the lab, see Chapter 16.
Preimplantation Genetic Testing for Polygenic Disorders
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Nathan R. Treff, Diego Marin, Laurent C. A. M. Tellier
IVF with PGT-P has the potential to significantly reduce the prevalence of disease in humans (34). While PGT is already performed in 40% of IVF cycles in the United States, only 1.8 percent of births are from IVF (35), thus limiting the potential for reducing the global burden of disease. As awareness increases for the availability of PGT-P, more patients may incorporate polygenic risk scoring in their IVF treatment plan. In most cases, this may derive from first knowing of the option, but also having knowledge of family history of a polygenic disease. Much like the utility of expanded carrier screening, where patients may often not be aware of a family history but are found to be carriers of a mutation that increases risk, polygenic risk scoring may be useful to many would-be parents. Patients may have an unknown high risk of disease that would be uncovered by DNA analysis ahead of attempting pregnancy. This additional information may also illustrate the potential benefits of PGT-P on an individualized basis.
Forensic Genetics and Genomic
Published in Cristoforo Pomara, Vittorio Fineschi, Forensic and Clinical Forensic Autopsy, 2020
Francesco Sessa, Francesca Maglietta, Alessio Asmundo, Cristoforo Pomara
The biological source identification of DNA profile should be mandatorily performed in every DNA analysis, with the exception for the case in which this step could compromise the DNA typing. Indeed, the conventional methods to identify the sources of body fluids are immunological, chemical, and enzymatic tests. The difficulties linked to these methods are related to great variability in terms of specificity and sensitivity, the large amount of required sample, and not reliable tests for every body fluid (e.g., vaginal secretion and menstrual blood). In order to address these issues, different molecular genetic approaches could be used, such as the methylation, cell-specific proteins, or RNAs (Forat et al., 2016; Zubakov et al., 2010; Hanson et al., 2009). To date, these methods are becoming the preferred tools.
The mitochondrial DNA control region sequences from the Chinese sui population of southwestern China
Published in Annals of Human Biology, 2021
Yuhang Feng, Hongling Zhang, Qiyan Wang, Meiqing Yang, Yubo Liu, Jie Wang, Jiang Huang, Zheng Ren
Mitochondrial DNA analysis is widely used in determining its contribution to rare and common genetic diseases, identifying and interpreting acquired variants in cancer, ageing and age-related diseases, analysing variations in pedigree and population studies, and individual identification in forensic medicine (Brandon et al. 2009). The copy number of mtDNA in human cells is much higher than that of nuclear DNA. For this reason, mitochondrial DNA analysis can provide useful results for forensic samples that have failed to obtain a successful nuclear DNA profile (Bandelt et al. 2012). With the application of various molecular biological detection methods in forensic identification cases, mitochondrial DNA sequence analysis has been properly verified, and become a reliable procedure for testing biological evidence encountered in forensic criminal cases.
Geisinger MyCode® detects BRCA2 mutation prior to abdominal panniculectomy allowing for DIEP flap breast reconstruction
Published in Case Reports in Plastic Surgery and Hand Surgery, 2019
This case report highlights the potential benefits for the individual patient who chooses to enroll in the MyCode® project. It is important to note that the MyCode® project is not meant to replace genetic testing for those individuals at increased risk for breast cancer based on family history. While the overall goal of the project is as a precision medicine health initiative for DNA analysis of enrolled individuals for the benefits of future patients, there has been an initial side benefit for patients who have actionable results detected. The data will continue to be more useful as the number of participants increases and continued research discovers new diseases or syndromes identifiable through genomics. Our awareness of how genomics can impact our patients will allow us to better counsel them regarding their treatment options, ultimately leading to better overall care.
Lessons in practicing cancer genomics and precision medicine
Published in Expert Review of Precision Medicine and Drug Development, 2018
It is critical to obtain and use any genome that has value. DNA analysis for pharmacogenetic purposes is usually performed with germ line DNA attained by blood samples, buccal specimens, or normal tissue samples. While somatic DNA obtained from tumor samples or cfDNA is particularly useful in identifying drug targets and predicting drug response [64], germ line DNA can be useful in predicting a drug’s pharmacokinetic and pharmacodynamic profile (e.g. uridine-diphosphate glucuronosyl transferase [UGT1A1] to predict irinotecan-induced toxicity [65,66], dihydropyrimidine dehydrogenase [DPYD] to predict fluorouracil-induced toxicity[67–69], cytochrome P450 2D6 [CYP2D6] to predict tamoxifen response[70–72], thiopurine-S-methyltransferase [TPMT] to predict mercaptopurine-induced toxicity [73–75]). The Clinical Pharmacogenetics Implementation Consortium (CPIC), comprised of international pharmacogenetics experts, have thus far published approximately 40 drug-gene guidelines to translate pharmacogenetic test results into actionable prescribing decisions, including many for supportive oncology like opioids and antidepressants. With regards to cancer therapies, guidelines exist for DPYD and fluoropyrimidines [76], CYP2D6 and tamoxifen [77], and TPMT and 6-mercaptopurine [78]. Genotype-guided drug or dose selection may optimize systemic drug exposures and improve efficacy.