Search results for "Genetic testing"
Whole-genome sequencing finds rare genetic disease risk in 1 of 5 healthy adults
While some primary care physicians may be able to manage genomic information appropriately, findings could prompt increased health care use with limited clinical value, the researchers said.
https://immattersacp.org/weekly/archives/2017/06/27/2.htm
27 Jun 2017
MKSAP Quiz: Intermittent rectal bleeding of 3 months' duration
A 46-year-old man is evaluated for intermittent rectal bleeding of 3 months' duration. Colonoscopy finds 12 polyps, and genetic testing reveals biallelic mutations in the MYH gene. What is the most cost-effective approach to determining if the patient's children have inherited MYH-associated polyposis?
https://immattersacp.org/weekly/archives/2018/04/03/3.htm
3 Apr 2018
MKSAP Quiz: Frequently fluctuating INRs
A 77-year-old woman is evaluated for frequently fluctuating INRs (<1.8 to >3.5) while taking warfarin therapy. She has undergone INR testing every 1 to 2 weeks and frequent warfarin dose adjustments. She reports a consistent dietary intake. Following a physical exam, what is the most appropriate next step in management?
https://immattersacp.org/weekly/archives/2018/05/01/3.htm
1 May 2018
DTC screening tests a source of concern
With the proliferation of the number and scope of direct-to-consumer tests, ACP is concerned about the unnecessary costs and undue anxiety for patients when results lead to follow-up testing to rule out a medical concern.
https://immattersacp.org/archives/2018/06/dtc-screening-tests-a-source-of-concern.htm
1 Jun 2018
MKSAP Quiz: Familial screening for hypertrophic cardiomyopathy
A 56-year-old man is being evaluated after his 18-year-old son had a syncopal episode during a high school basketball game and was diagnosed with hypertrophic cardiomyopathy (HCM). The patient has had no symptoms, including with physical activity such as golfing or playing tennis. Findings of a comprehensive physical examination are unremarkable. An electrocardiogram and echocardiogram are normal, with no evidence of HCM. When should this patient next be screened for HCM?
https://immattersacp.org/weekly/archives/2018/06/19/3.htm
19 Jun 2018
MKSAP Quiz: Follow-up for deep venous thrombosis
A 42-year-old man arrives for three-month follow-up of a proximal right leg DVT after right tibia fracture. Thrombophilia evaluation was done, although not recommended by guidelines, and found an elevated plasma homocysteine level; genetic testing then found homozygosity for the C677T methylene tetrahydrofolate reductase (MTHFR) polymorphism. His only medication is warfarin. What is the most appropriate next step in management?
https://immattersacp.org/weekly/archives/2018/07/17/3.htm
17 Jul 2018
Updated ACP Ethics Manual addresses genetic testing, telemedicine, end-of-life care
The seventh edition of the ACP Ethics Manual reaffirms ethical tenets of medicine and reexamines their application in changing circumstances.
https://immattersacp.org/weekly/archives/2019/01/15/2.htm
15 Jan 2019
MKSAP Quiz: Follow-up visit for ovarian cancer
A 62-year-old woman is evaluated during a follow-up visit for recently diagnosed stage IIIA high-grade serous ovarian cancer. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy and completed six cycles of chemotherapy with cisplatin and paclitaxel. The patient's paternal aunt was diagnosed with breast cancer at age 52 years. Following a physical exam and lab studies, what is the most appropriate test to perform next?
https://immattersacp.org/weekly/archives/2019/01/29/3.htm
29 Jan 2019
Latest updates on ACP's priorities, initiatives
ACP Spotlight offers readers a look at ACP's current top priorities and initiatives, as well as highlights from our e-newsletter, ACP Internist Weekly.
https://immattersacp.org/archives/2019/02/latest-updates-on-acps-priorities-initiatives.htm
1 Feb 2019
To test or not to test for inherited thrombophilias
First consider whether a deep venous thrombosis was provoked or unprovoked, as well as at the type of provoking factors.
https://immattersacp.org/archives/2019/06/to-test-or-not-to-test-for-inherited-thrombophilias.htm
1 Jun 2019