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Tag: genetics

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600px-ONS_compositesCan genetic information catch a killer?  And, cost you your privacy?

A recent essay published the New England Journal of Medicine explores the value and potential societal costs posed by access to private genetic information.  In Sociogenetic Risks — Ancestry DNA Testing, Third-Party Identity, and Protection of Privacy, Dr. Thomas May explores the tension between the utility of genetic information and risks to privacy posed by individuals, including adoptees, seeking to identify genetic relatives, the limitations of the Genetic Information Nondiscrimination Act (GINA), and the effect on large scale population studies such as the National Institute of Health's All of Us initiative. 
To learn more about these issues and other genetics topics, explore the Genetics Journal Club and Himmelfarb Library‘s resources including:
  1. May T. Sociogenetic Risks - Ancestry DNA Testing, Third-Party Identity, and Protection of Privacy. N Engl J Med. 2018 Jun 20. doi: 10.1056/NEJMp1805870. [Epub ahead of print] PubMed PMID: 29924688. 
  2. Beamer LC. Ethics and Genetics: Examining a Crossroads in Nursing Through a Case Study
. Clin J Oncol Nurs. 2017 Dec 1;21(6):730-737. doi: 10.1188/17.CJON.730-737. PubMed PMID: 29149121. 
  3. Molnár-Gábor F, Lueck R, Yakneen S, Korbel JO. Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally. Genome Med. 2017 Jun 20;9(1):58. doi: 10.1186/s13073-017-0449-6. Review. PubMed PMID: 28633659; PubMed Central PMCID: PMC5477758. 

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puzzleIn the recent NEJM essay p53 and me, Shekinah N.C. Elmore describes the experience of living with a genetic diagnosis as "flying between fatalism and denial".  Dr. Elmore was diagnosed with Li–Fraumeni syndrome during her 1st year of medical school having already survived childhood rhabdomyosarcoma and simultaneous diagnoses of breast and lung cancer as an adult.  Dr. Elmore explores what it means in her life to have this genetic knowledge, how it affects her life,  and what types of information would help her and others undergoing genetic testing in the future.

To learn more about genetic testing, genetic counseling, Li–Fraumeni syndrome, and other genetics topics, explore the Genetics Journal Club and Himmelfarb Library's resources including:

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https://youtu.be/uQjOTTAlgjE

Can gene therapy eliminate the need for blood transfusions for patients with transfusion-dependent β thalassemia?

This article reports the results of two phase 1-2 studies studied on the use of a gene therapy.  In these studies, patients with transfusion-depenent β-thalassemia received gene therapy to assess if this therapy would substitute for the standard therapy, red-cell blood transfusions.  The researchers were assessing both the safety and the efficacy of this gene therapy.  You can read the results of this study in the New England Journal of Medicine.

Thompson, A. A., Walters, M. C., Kwiatkowski, J., Rasko, J. E., Ribeil, J. A., Hongeng, S., ... & Moshous, D. (2018). Gene therapy in patients with transfusion-dependent β-thalassemia. New England Journal of Medicine, 378(16), 1479-1493.

To learn more about this area of gene therapy, explore additional readings from Himmelfarb Library's full-text collection:

  • Boulad F, Mansilla-Soto J, Cabriolu A, Rivière I, Sadelain M. Gene Therapy and
    Genome Editing    . Hematol Oncol Clin North Am. 2018 Apr;32(2):329-342. doi:
    10.1016/j.hoc.2017.11.007. Epub 2018 Jan 9. Review. PubMed PMID: 29458735.
  • Ferrari G, Cavazzana M, Mavilio F. Gene Therapy Approaches to
    Hemoglobinopathies    . Hematol Oncol Clin North Am. 2017 Oct;31(5):835-852. doi:
    10.1016/j.hoc.2017.06.010. Review. PubMed PMID: 28895851.
  • Glaser A, McColl B, Vadolas J. The therapeutic potential of genome editing for
    β-thalassemia    . F1000Res. 2015 Dec 11;4. pii: F1000 Faculty Rev-1431. doi:
    10.12688/f1000research.7087.1. eCollection 2015. Review. PubMed PMID: 26918126;
    PubMed Central PMCID: PMC4753996.

Explore more of Himmelfarb Library's genetics collection by checking out:

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This month, the Genetics Journal Club features a double-blind randomized clinical trial which compared the use of a third-generation irreversible EGFR-TKI (osimertinib) versus standard therapy (gefitinib or erlotinib) to treat non small-cell lung cancer.  You can read the results of this study in the New England Journal of Medicine.

Soria, J. C., Ohe, Y., Vansteenkiste, J., Reungwetwattana, T., Chewaskulyong, B., Lee, K. H., ... & Okamoto, I. (2017). Osimertinib in Untreated EGFR-Mutated Advanced Non–Small-Cell Lung Cancer. New England Journal of Medicine.

To learn more about EGFR mutations in non small-cell lung cancer, explore additional readings from Himmelfarb Library's full-text collection:

Explore more of Himmelfarb Library's genetics collection by checking out:

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 That is the question now being considered in light of a new research article in the New England Journal of Medicine in which a new gene therapy drug was given to men with hemophilia B.  After receiving the new drug, the patients were able to stop using clotting factors to treat their hemophilia.  Patients rates of bleeding also fell - from about 11 bleeding events per year to less than one bleeding event per year.  Learn more about the research here:

Explore genetics topics via the Genetics Journal Club and Himmelfarb Library's genetics collection by checking out:

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pharmacogenomics-2316521_960_720

  • Is this drug more effective for individuals with a specific genetic profile?  
  • Are some people at increased risk of a serious drug reaction from a specific drug?  
  • How is pharmacogenomic information being used clinically right now?

Pharmacogenomics: Precision Medicine and Drug Response, a new CME review article from the Mayo Clinic Proceedings, explores these issues.  This article provides a brief history of pharmacogenomics, information on current clinical applications, and conceptualizes the future of pharmaceogenomics.

This article is available online via ClinicalKey which is part of Himmelfarb Library's online collection.  To read more about genetics, check out these full-text e-books in ClinicalKey

To explore more genetics topics, check out Dr. Charles Macri's online Genetics Journal Club!

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FatmouseIs obesity caused by more than eating too much and exercising too little?

A new article in the Proceedings of the National Academy of Sciences describes a genetic variation called ankyrin-B which may cause people to gain weight.   This article by Damaris N. Lorezo and Vann Bennett demonstrates that ankyrin-B deficiency makes mice more likely to become obese with age or when fed a high-fat diet.

Check out additional articles on genetics research in Dr. Charles Macri’s online Genetics Journal Club.

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Can a blood test be used to screen for cancer? 

This question was addressed in a recent NEJM article which investigated if checking for the Epstein-Barr virus (EBM) in plasma samples would be a useful screening test for nasopharyngeal carcinoma in patients with no symptoms of the disease. 

To understand how this prospective study was conducted and learn about the results, read the article or watch the NEJM's quick take video:

 
Check out additional articles on genetics research in Dr. Charles Macri's online Genetics Journal Club.

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dnaResearch recently published in Nature describes how scientists edited the genes in a human embryo.  Scientists sought to remove a specific genetic mutation, the MYBPC3 mutation, which has been associated with the development of hypertrophic cardiomyopathy.
In hypertrophic cardiomyopathy, the myocardium heart muscle grows abnormally thick which makes it more difficult for the heart to pump blood.  Hypertrophic cardiomyopathy is frequently asymptomatic, but can also cause chest pain, lightheartedness, and palpitations  and is the most common cause of sudden death in people under 30 and competitive athletes.
You can read more about this research in a New York Times news article as well as in the original research by primary authors Hong Ma, Nuria Marti-Gutierrez, Sang-Wook Park, and Jun Wu.
Dr. Charles Macri's online Genetics Journal Club can help you connect to new genetics research with new articles posted monthly.

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Check out this freely-accessible National Geographic article titled “How the DNA Revolution is Changing Us”.  This article explores the role of CRISPR in gene modification efforts, its potential, and the ethical challenges it raises.

Genetic modification has improved disease control and prevention, and has the potential to prevent conditions and diseases that result from one’s genetic makeup.  However, where we draw the line of application is the true question.

Interested in more resources for genetics?  Check out our Genetics Journal Club Research Guide.

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