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Genetics Journal Club: 2017-18

A journal club for GWUMC faculty, fellows, residents and students interested in genetics.

June 2018

May 2018

April 2018

March 2018

February 2018

January 2018

December 2017


This virtual journal club is intended to provide a way for health care practitioners to see new literature in genetics and to learn about developments in the field.

Articles on topics in medical genetics will be posted monthly, or more often if a particularly timely article is published.  To participate, read the article and then add your comments to participate in the online discussion. 

November 2017

October 2017

September 2017

August 2017

July 2017

Can genetic information catch a killer? And, cost you your privacy?

Can genetic information catch a killer? And, cost you your privacy?

Can 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. 

Flying between fatalism and denial: living with a genetic diagnosis

Flying between fatalism and denial: living with a genetic diagnosis

In the recent NEJM essay p53 and meShekinah 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 and how it affects her life - and what types of information would help her and others doing genetic testing in the future.  

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

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-dependent 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.

Does osimertinib extend progression-free survival for patients with non-small cell lung cancer with an EGFR mutation

A double-blind randomized clinical trial compared 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:

Is a cure for hemophilia within reach?

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.  Read about the research here:

Genetics News - December 2017

Genetics News - December 2017

  • 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 pharmacogenomics.

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

Genetics News- November 2017

Genetics News- November 2017Is obesity caused by more factors 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.  

Genetics News - October 2017

Genetic link between asthma, hay fever, and eczema?

Clinicians have long know that patients who have asthma are also likely to have hay fever or eczema.  Researchers have now identified the gene variants which are responsible for this association and published their results in Nature Genetics.  To find these variants, the genomes of more than 360,000 people were analyzed and 136 positions in the genome were identified.  If an individual has inherited these genetic risk factors, that person is a higher risk of developing asthma, hay fever, and/or eczema - or all three!

Genetics News - September 2017

Is there a genetic cause for preterm births? 

While evidence has suggested that this is true, the first study identifying specific genetic factors that exist in women with preterm deliveries was just published in the New England Journal of Medicine.  This study used data from nearly 50,000 women and identified specific genetic variations which can predict length of gestation and risk of preterm birth:


Genetics News - September 2017

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