Effective treatment of genetic testing: A Synthesis of Findings from 14 Studies

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Original Abstract of the Article

Major Research Findings

Genetic testing plays a crucial role in diagnosing, treating, and preventing various diseases, including cancer. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 By analyzing an individual's genetic information, doctors can choose more effective treatment options. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Genetic testing helps assess the risk of cancer progression and recurrence, enabling individuals to take appropriate preventive measures. 6 ， 14 ， 5

Treatment Summary

In breast cancer treatment, genetic testing aids in selecting adjuvant therapy and predicting prognosis. 6 For metastatic breast cancer patients, genetic testing helps identify potentially effective anti-tumor agents. 6 For Parkinson's disease and dystonia patients, genetic testing may enhance the effectiveness of deep brain stimulation (DBS). 7 For instance, genes like GBA, SNCA, LRRK2, and PRKN in Parkinson's disease and DYT-TOR1A, NBIA/DYTPANK2, DYT-SCGE, X-linked dystonia-parkinsonism in dystonia may impact treatment outcomes. 7 In prostate cancer treatment, genetic testing helps select more effective treatment options. 8 For example, mutations in genes like ATM, BRCA2, and BRCA1 may influence prostate cancer treatment. 8 In pancreatic cancer treatment, genetic testing helps evaluate the risk of cancer progression and recurrence, enabling the selection of appropriate treatment options. 9 In epilepsy treatment, genetic testing helps identify genetic variations that cause epilepsy, allowing for the selection of suitable treatment options. 10 ， 11 ，， 4 For instance, mutations in genes like SCN1A and KCNQ2 can impact epilepsy treatment. 11 In dilated cardiomyopathy treatment, genetic testing helps identify genetic variations that cause cardiomyopathy, enabling the selection of suitable treatment options. 12 In colorectal cancer treatment, genetic testing helps evaluate the risk of cancer progression and recurrence, allowing for the selection of appropriate treatment options. 13 ， 5 Immune checkpoint inhibitors like pembrolizumab, nivolumab, and ipilimumab may be effective in colorectal cancer with high microsatellite instability. 13

Benefits and Risks

Benefits Summary

Genetic testing offers numerous benefits in diagnosing, treating, and preventing cancer and other diseases. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 By analyzing individual genetic information, doctors can potentially choose more effective treatment options. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Genetic testing helps assess the risk of cancer progression and recurrence, enabling individuals to take appropriate preventive measures. 6 ， 14 ， 5

Risk Summary

Genetic testing comes with certain risks. 6 Genetic test results may cause psychological stress for individuals. 6 Furthermore, genetic test results could potentially impact employment and insurance. 6 There is also a possibility of errors in genetic test results. 6

Comparison Between Studies

Commonalities Between Studies

Many studies suggest that genetic testing plays a crucial role in diagnosing, treating, and preventing cancer and other diseases. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Genetic testing can potentially help doctors select more effective treatment options by analyzing individual genetic information. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Furthermore, genetic testing helps assess the risk of cancer progression and recurrence, enabling individuals to take appropriate preventive measures. 6 ， 14 ， 5

Differences Between Studies

Different studies investigate the effectiveness of genetic testing for different diseases and the specific information derived from genetic testing. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 For example, breast cancer studies suggest that genetic testing helps assess the risk of cancer progression and recurrence, allowing for the selection of appropriate treatment options. 6 Prostate cancer studies suggest that genetic testing could help select more effective treatment options. 8 Parkinson's disease and dystonia studies suggest that genetic testing may enhance the effectiveness of deep brain stimulation (DBS). 7 Therefore, the scope and effectiveness of genetic testing can vary depending on the study. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4

Consistency and Contradictions in Results

Many studies suggest that genetic testing plays a crucial role in diagnosing, treating, and preventing cancer and other diseases. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 However, some studies suggest that genetic test results may not always translate directly into effective treatment outcomes. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Therefore, caution is necessary when interpreting genetic test results. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4

Practical Application Considerations

Genetic testing can be a valuable tool for diagnosing, treating, and preventing cancer and other diseases. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 However, genetic testing is not a panacea. 6 Genetic test results may not always translate directly into effective treatment outcomes. 6 Therefore, it is crucial to consult with a doctor or genetic counselor before undergoing genetic testing. 6 ， 3 ， 5 Genetic testing is a tool for analyzing individual genetic information, and the final treatment plan should be decided through consultation between the patient and their doctor. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4

Current Limitations in Research

Research on genetic testing is still in its early stages. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Further research will shed more light on the effectiveness and risks associated with genetic testing. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4

Future Research Directions

Future research should further investigate the effectiveness and risks associated with genetic testing. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Developing more effective treatment options based on genetic test results is also crucial. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 Additionally, ethical issues related to genetic testing should be considered. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4

Conclusion

Genetic testing holds potential as a valuable tool for diagnosing, treating, and preventing cancer and other diseases. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4 However, it's essential to understand that genetic testing is not a guaranteed solution. 6 Consulting with a doctor or genetic counselor before undergoing genetic testing is crucial. 6 ， 3 ， 5 Remember that genetic testing is a tool for analyzing individual genetic information, and the final treatment plan should be decided through consultation between the patient and their doctor. 6 ， 8 ， 9 ， 14 ， 13 ， 5 ， 4

Treatment List

・Adjuvant therapy ・Anti-tumor agent ・Deep brain stimulation (DBS) ・Immune checkpoint inhibitors

Literature analysis of 14 papers
Positive Content
14
Neutral Content
0
Negative Content
0
Article Type
3
0
2
5
14
1.

Cost-Effectiveness of Pharmacogenomic and Pharmacogenetic Test-Guided Personalized Therapies: A Systematic Review of the Approved Active Substances for Personalized Medicine in Germany.

Author: PlöthnerMarika, RibbentropDana, HartmanJan-Phillipp, FrankMartin

Improved drug therapy
Cost-effectiveness

This study reviewed the cost-effectiveness (CE) of pharmacogenetic test-guided drug therapy, comparing the application of drugs with and without prior genetic testing.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

2.

Streamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial.

Author: QuinnVeronica F, MeiserBettina, KirkJudy, TuckerKathy M, WattsKaaren J, RahmanBelinda, PeateMichelle, SaundersChristobel, GeelhoedElizabeth, GleesonMargaret, Barlow-StewartKristine, FieldMichael, HarrisMarion, AntillYoland C, CicciarelliLinda, CroweKaren, BowenMichael T, MitchellGillian

Cost-effective education
Informed decision

A streamlined model of educating women newly diagnosed with breast cancer about treatment-focused genetic testing (TFGT) was found to be cost-effective and ensured that women felt informed and supported in their decision making.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

3.

Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.

Author: McCuaigJeanna M, ToneAlicia A, MagantiManjula, RomagnuoloTina, RickerNicole, ShuldinerJennifer, RodinGary, StockleyTracy, KimRaymond H, BernardiniMarcus Q

Genetic testing
Pre-test GC

This study evaluated a new model for delivering genetic counseling (GC) to cancer patients considering panel-based genetic testing. The goal was to improve efficiency and meet the growing demand for these services. While the study does not provide specific details on the new model's effectiveness or any quantitative results, it suggests that a new approach is needed to address the increasing demand for pre-test genetic counseling.

Equivalence TrialA clinical trial designed to show that a new treatment is equivalent in efficacy/safety to an existing treatment.
Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

4.

Genetic testing for the epilepsies: A systematic review.

Author: SheidleyBeth R, MalinowskiJennifer, BergnerAmanda L, BierLouise, GlossDavid S, MuWeiyi, MulhernMaureen M, PartackEmily J, PoduriAnnapurna

Improved diagnosis
Improved management
Improved treatment

This systematic evidence review (SER) examines the diagnostic yield and non-yield outcomes (NYOs) of genetic testing for epilepsy. The review assesses the value of genetic testing for diagnosis, treatment, prognosis, and genetic counseling.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Systematic ReviewA review that systematically collects, evaluates, and integrates relevant research to answer a specific research question.

Language : English

5.

Patient navigation for hereditary colorectal cancer: Design of a randomized controlled trial to determine the effectiveness of pathways to genetic counseling.

Author: ReedAlyssa K, KohnMarlana J, StaymanSarah, ColeAllison M, KoCynthia W, KonnickEric Q, SwansonPaul E, ZhangYing, KnerrSarah

Improved genetic counseling attendance
Improved genetic counseling referral

A randomized controlled trial is being conducted to evaluate the effectiveness of a patient navigation program in increasing genetic counseling attendance in patients with colorectal cancer.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Randomized Controlled TrialA clinical trial that randomly assigns participants to treatment and control groups to evaluate the effects of an intervention.
Research Support, U.S. Gov't, P.H.S.Research funding provided by the Public Health Service (PHS).

Language : English

8.

Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.

Author: FountzilasElena, KouspouMaria, EliadesAlexia, PapadopoulouKyriaki, BournakisEvangelos, GoussiaAnna, TsiatasMarinos, AchilleosAchilleas, TsangarasKyriakos, BillioudGaetan, LoizidesCharalambos, LemesiosChristos, KypriElena, IoannidesMarios, KoumbarisGeorge, LevvaSofia, VakalopoulosIoannis, PaliourasAthanasios, PervanaStavroula, KoinisFilippos, BumciRedi, ChristopoulouAthina, MeditskouSoultana, PsyrriAmanda, BoukovinasIoannis, VisvikisAnastasios, KaravasilisVasilios, KoukoulisGeorge K, KotsakisAthanasios, GiannakisDimitrios, FountzilasGeorge, PatsalisPhilippos C

Prognostic significance
Therapeutic implications
Prostate cancer

This study evaluated the prevalence and prognostic significance of gene alterations in a cohort of European patients with prostate cancer. Gene alterations, particularly in homologous recombination repair (HRR) genes, were identified in a significant proportion of patients. The presence of HRR gene alterations was not associated with advanced stage, age at diagnosis, Gleason score, or overall survival. The findings highlight the importance of molecular profiling in prostate cancer for personalized treatment decisions.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Language : English

10.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Author: McKnightDianalee, MoralesAna, HatchellKathryn E, BristowSara L, BonkowskyJoshua L, PerryMichael Scott, BergAnne T, BorlotFelippe, EsplinEdward D, MoretzChad, AngioneKatie, Ríos-PohlLoreto, NussbaumRobert L, AradhyaSwaroop, , Haldeman-EnglertChad R, LevyRebecca J, ParachuriVenu G, Lay-SonGuillermo, de MontellanoDavid J Dávila-Ortiz, Ramirez-GarciaMiguel Angel, Benítez AlonsoEdmar O, ZiobroJulie, Chirita-EmandiAdela, FelixTemis M, Kulasa-LukeDianne, MegarbaneAndre, KarkareShefali, ChagnonSarah L, HumbersonJennifer B, AssafMelissa J, SilvaSebastian, ZarroliKatherine, BoyarchukOksana, NelsonGary R, PalmquistRachel, HammondKatherine C, HwangSean T, BoutlierSusan B, NolanMelinda, BatleyKaitlin Y, ChavdaDevraj, Reyes-SilvaCarlos Alberto, MiroshnikovOleksandr, ZuccarelliBritton, Amlie-WolfLouise, WhelessJames W, SeinfeldSyndi, KanhangadManoj, FreemanJeremy L, Monroy-SantoyoSusana, Rodriguez-VazquezNatalia, RyanMonique M, MachieMichelle, GuerraPatricio, HassanMuhammad Jawad, CandeeMeghan S, BuppCaleb P, ParkKristen L, MullerEric, LupoPamela, PedersenRobert C, ArainAmir M, MurphyAndrea, SchatzKrista, MuWeiyi, KalikaPaige M, PlazaLautaro, KelloggMarissa A, LoraEvelyn G, CarsonRobert P, SvystilnykVictoria, VenegasViviana, LukeRebecca R, JiangHuiyuan, StetsenkoTetiana, Dueñas-RoqueMilagros M, TrasmonteJoseph, BurkeRebecca J, HurstAnna C E, SmithDouglas M, MassinghamLauren J, PisaniLaura, CostinCarrie E, OstranderBetsy, FillouxFrancis M, AnanthAmitha L, MohamedIsmail S, NechaiAlla, DaoJasmin M, FaheyMichael C, AliuErmal, FalchekStephen, PressCraig A, TreatLauren, EschbachKrista, StarksAngela, KammeyerRyan, BearJoshua J, JacobsonMona, ChernuhaVeronika, MeibosBailey, WongKristen, SweneyMatthew T, EspinozaA Chris, Van OrmanColin B, WeinstockArie, KumarAshutosh, Soler-AlfonsoClaudia, NolanDanielle A, RazaMuhammad, Rojas CarrionMiguel David, ChariGeetha, MarshEric D, Shiloh-MalawskyYael, ParikhSumit, Gonzalez-GiraldoErnesto, FultonStephen, SogawaYoshimi, BurnsKaitlyn, MaletsMyroslava, Montiel BlancoJohnny David, HabelaChrista W, WilsonCarey A, GuzmánGuillermo G, PavliukMariia

Epilepsy genetic testing

This retrospective cross-sectional study evaluated the association between genetic diagnoses in patients with epilepsy and clinical management and outcomes. A genetic diagnosis was associated with changes in clinical management for 49.8% of patients, most commonly leading to the addition or initiation of medication, referral to a specialist, vigilance for subclinical or extraneurological disease features, or cessation of medication. Positive outcomes were reported for 74.9% of patients with follow-up information available, including reduced or eliminated seizures, decreased severity of clinical signs, and reduced medication adverse effects.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

11.

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.

Author: BoonsimmaPonghatai, IttiwutChupong, KamolvisitWuttichart, IttiwutRungnapa, ChetruengchaiWanna, PhokaewChureerat, SrichonthongChalurmpon, PoonmaksatitSathida, DesudchitTayard, SuphapeetipornKanya, ShotelersukVorasuk

Improved seizure control
Targeted treatments
Treatable epilepsy

This study examined the diagnostic yield and treatment implications of exome sequencing (ES) as a first-tier genetic test for infantile-onset pharmacoresistant epilepsy. ES solved 62% of cases, including 8% with treatable disorders that led to seizure freedom. The study supports the use of ES as a first-line genetic test for this condition.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

12.

Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.

Author: García-HernandezSoledad, IglesiasLorenzo Monserrat

DCM diagnosis
Risk stratification

Dilated cardiomyopathy (DCM) is a common primary cardiomyopathy with both genetic and non-genetic causes. Understanding the genetic substrates, genotype-phenotype correlations, and the role of genetic testing can help in risk stratification and precision medicine approaches for managing DCM.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.

Language : English

13.

[Treatment Strategy with Immune Checkpoint Inhibitors and Genetic Testing for Colorectal Cancer with Microsatellite Instability-High].

Author: YamazakiKentaro, KawakamiTakeshi, ShirasuHiromitsu, FushikiKunihiro, MuraseMaki, MurakamiHiromi

Colorectal cancer treatment
Immune checkpoint inhibitor
Not specified

Immune checkpoint inhibitors (ICIs) are increasingly used for advanced colorectal cancer with microsatellite instability-high (MSI-H). This review examines gene mutation tests used for advanced colorectal cancer, the molecular mechanism of MSI-H, the clinical development of ICIs, and future perspectives on treatment strategies.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.

Language : Japanese

14.

The role of genetic testing in prostate cancer screening, diagnosis, and treatment.

Author: de la CalleClaire M, BhanjiYasin, PavlovichChristian P, IsaacsWilliam B

Early detection
Personalized prostate cancer care
Targeted treatment

This review summarizes the current role of genetic testing in prostate cancer screening, diagnosis, and treatment. Recent studies have identified rare pathogenic mutations (RPMs) and single nucleotide polymorphisms (SNPs) associated with prostate cancer risk, and tumor tissue sequencing can identify actionable somatic mutations.

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
ReviewAn article that critically examines existing research on a particular topic and summarizes the current state of knowledge in the field.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Language : English

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