Genomics is revolutionizing our understanding of disease and changing the way clinicians and individuals approach heath care. From the early days of genomics that focused on identifying disease risk based on family history, health care has ushered in a new era in which genomic knowledge is used more and more frequently to choose the right therapies (i.e., personalized medicine), reprogram the immune system (T-helper cells) to more precisely combat cancer, and manipulate genes to restore healthy cell function (i.e., CRISPER).
What does this tidal wave of new information mean to you and/or your practice? Many questions may emerge as you ponder what genomics will mean for you, your family, and the patients you provide care for. This "Unraveling the Genome" column will provide a series of concise summaries focused on addressing some of the emerging issues in genomics to serve as a ready resource to help you expand your genomics literacy.
Some of the specific topics you and your colleagues have told us you would be interested in learning more about are:
* When is a genomic testing appropriate?
* How might a genetic test result impact my patient and/or their family?
* What is the "right" (legally and morally) way to approach genetic screening in children?
* How can (or does) the Family Health History help assess risk?
* What is the cost/benefit ratio of ordering a genetic test?
* Will a genetic test be able to answer my clinical question or guide therapy?
* What if a patient exhibits a phenotype, but has negative genetic test results?
* What do I do with "incidental" genetic test results (looking for one thing, identifying something entirely unrelated)?
* Do I have the time and knowledge to provide truly informed consent for genetic testing?
* How do I maintain patient and/or family autonomy with genetic test results?
* Who is the best person in the family to test for a condition?
* Who should communicate the results to the patient/family?
As the number of patients using direct to consumer genetic testing services and the number of genetic testing guidelines increases, it is likely that providers will begin using more and more genetic testing to assess disease risk, guide therapy, and assist in discussions regarding genetic risk to future offspring. Currently, nearly 70,000 genetics tests are available in the United States, and that number is expected to increase by 10 new tests per day (Concert Genetics, 2017), a demand being driven by consumers and health care organizations. As a result of the expansion in testing, new ethical, legal, and social issues have and are continuing to emerge. The Genetic Information Nondiscrimination Act (GINA), which was passed in 2008, protects patients from some forms of genetic discrimination, but new forces that may undermine this protection are emerging. For example, House Bill 1313, proposed in 2017, could have impacted employee health care costs based on whether an individual consents to genetic testing (Library of Congress, 2017).
The overarching goal of the column is to provide up-to-date information about genomics, answer common genomics concerns, and examine selected clinical scenarios. The editors suspect many of you have had at least one patient or family member ask you a genomic question or asked you to order a genetic test, have read a genomics article that has stimulated questions, have engaged in genetics research, or have added genomics concepts to your course syllabus. We would also like to engage with you as a reader and possible contributor to this column. If you have suggestions of what you would like to see addressed in future issues or are interested in contributing to the JAANP "Unraveling the Genome" column, please contact mailto:[email protected], or post your item in our simple (3 item) questionnaire located at https://goo.gl/forms/HfLq5DvhgUseTwlt2.
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