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Genomics/Genetics

Parkinson disease

Nguyen H. Park, MS, PA-C May 28, 2012

This article reviews the diagnosis and treatment of Parkinson disease and defines how genetics and genetic testing can play a role.

Hereditary breast and ovarian cancer

Phyllis Barks, MPH, PA, Constance Goldgar, MS, PA-C March 26, 2012

Patients who test positive for the BRCA1/2 mutations that cause breast and ovarian cancers have options when it comes to surveillance and prevention.

Chromosomal microarray testing

W. Andrew Faucett, MS, CGC, Melissa Savage, MS, CGC January 30, 2012

CMA testing of children with autism, intellectual impairment, or multiple congenital anomalies detects clinically significant chromosomal deletions and duplications that are not visible by routine chromosome studies.

Preimplantation genetic diagnosis

R. Lynn Holt, MS, CGC September 22, 2011

This article reviews the use of preimplantation genetic diagnosis (PGD), an assisted reproductive technology that has been used to evaluate embryos for genetic conditions prior to implantation.

Lynch syndrome

Ed Michaud, PhD July 29, 2011

Lynch syndrome, an autosomal dominant disorder that carries a high risk for colorectal and endometrial cancers, can be best detected by obtaining a family cancer history, screening colorectal and endometrial cancers for LS, and genetic testing of at-risk patients and family members.

Polydactyly in a young boy: A cause of teasing and local tribal suspicion

Commander Nora M. Perez, PA-C, Major Marc C. Raciti, PA-C June 27, 2011

During a medical civic action program in Ethiopia, a 10-year-old male with polydactyly arrived with his father for surgical removal of his extra digits, the cause of much taunting and grief.

What's new in Alzheimer disease:  Biomarkers and gene mutations as aids for detecting AD early

John K. Grandy, MS, RPA-C June 16, 2011

New discoveries in neurogenetics and proteinopathies may allow Alzheimer disease to be detected in patients even before symptoms manifest.

Familial dilated cardiomyopathy

Nguyen H. Park, MS, PA-C May 10, 2011

Dilated cardiomyopathy (DCM) is a broad category of conditions in which the heart muscle enlarges, causing left ventricular systolic dysfunction. Clinicians should understand how to conduct genetic testing and manage this disorder.

Neurofibromatosis, type 1  (von Recklinghausen disease)

Constance Goldgar, MS, PA-C March 09, 2011

NF1 is an autosomal dominant condition that exemplifies pleiotropy, the genetic effect of a single gene on multiple phenotypic traits. The disorder affects multiple systems.

Genomics:  Present-day  practices and future trends

From CSAC, the Clinical and Scientific Affairs Council of the AAPA January 14, 2011

The area of pharmacogenetics—the use of genetic information to tailor pharmacotherapeutic decision-making for an individual—likely offers the greatest promise in improving health care within the next decade.

Mystery solved: The evolution of  diagnostic abilities in genetic testing

Gary S. Gottesman, MD, FAAP, FACMG, Jacqueline R. Batanian, PhD, FACMG January 12, 2011

New technology advances in cytogenetic and molecular technology have expanded clinicians' abilities to identity difficult-to-diagnose genetic conditions.

Rare conditions: Where do primary care and genetic diseases intersect?

Sharon F. Terry, MA, Alyson Krokosky, MS November 17, 2010

As knowledge related to rare genetic disorders grows, the role of the primary care provider must change to accommodate such patients.

The Genetic Information Nondiscrimination Act (GINA): How PAs can protect patients and their families

Constance Goldgar, MS, PA-C July 14, 2010

A new law protects against the misuse of genetic information that may reduce health care benefits for patients and their families.

The genetics encounter: Not the typical clinic visit

Gary S. Gottesman, MD, FAAP, FACMG March 18, 2010

The author explains the detail-oriented work of a pediatric geneticist working at a genetics clinic to help children and families dealing with rare disorders.

Ask a Librarian!—March 2010

Jim Anderson, PA-C, ATC, Susan Klawansky, MLS, AHIP March 12, 2010

Need more information about genetics or about patient assessment instruments and tests? This month's column discusses resources that can help.

Toward a more nuanced conversation: The role of genetics in understanding racial and ethnic health disparities

Vence L. Bonham, JD January 15, 2010

The role played by genetics in racial and ethnic health disparities must be reported more factually and responsibly than it has been to date.

Helping your patients to deal with a predisposition to genetic disease

Andrea Farkas Patenaude, PhD November 19, 2009

PAs who understand both the medical and psychological implications of genetic information can help to integrate this new area of medical practice into the lives of patients.

Clarification of the meaning of a negative test result

October 16, 2009

Should I be tested for the BRCA gene?

Jill Gore, MPAS, PA-C September 24, 2009

Patients whose family members have breast, ovarian, or prostate cancer will want to know their risk of disease and if there's anything the can do to reduce it.

What PAs should know before they refer patients to a genetic counselor

Erynn Gordon, MS, CGC September 17, 2009

A thorough understanding of the potential risks and benefits is necessary before referring a patient for genetic counseling.

FAP: Recognizing the importance of family history and genetic testing

Mike Deeter, PA-C September 14, 2009

A young woman with a family history of abdominal scars presents with hematochezia, diffuse abdominal pain, and anemia.

Why was antiphospholipid antibody syndrome not included?

August 13, 2009

Genetic susceptibility to VTE: A primary care approach

Carcinoma of unknown primary: Searching for the origin of metastases

Heather R. Carlson, MSPAP, PA-C August 03, 2009

Diagnostic tests and select imaging studies can help identify the potential, and often elusive, primary tumor.

Pharmacogenetics: What PAs need to understand and why

Lawrence Carey, PharmD July 15, 2009

An understanding of how genes can influence drug metabolism will help you select the proper regimen for each patient.

Genetic susceptibility to VTE: A primary care approach

Herbert D. Ridings, MA, PA-C; Lynn Holt; Rebecca Cook, MD; Marisa B. Marques, MD July 01, 2009

Patients with a genetic thrombophilia must be referred to a hematology specialist for long-term management.

The role of genetic assessment in determining a patient's disease risk

Michael A. Rackover, PA-C, MS; Doug Scott, MS May 12, 2009

New genetic testing may allow clinicians to lower patients' risk of disease and institute preventive therapy.

A genome's home: Genomics and health care reform

W. Gregory Feero, MD, PhD March 10, 2009

The PA community has been a leader in adopting and enacting competencies for genetics and genomics education for its members. Continued vision and leadership by PAs will help to ensure that the genome has a home in the future of medicine.

What condition caused the cyclical decompensation in this child?

Tracy M. Deutsch, MS, PA-C February 10, 2009

Mitochondrial cytopathy refers to a group of disorders. A lack of unique symptoms makes the diagnosis difficult.

Get ready for the brave new world of genetic medicine

Michael A. Rackover, PA-C, MS; Constance Goldgar, MS, PA-C January 01, 2009

This first article describes some of the activities PAs are working on in the genetics community.

Embracing the new world of personalized medicine

Michael A. Rackover, PA-C, MS May 01, 2007

We are entering a time when the dream of personalized medicine will become a reality. Instead of treating patients in a one-size-fits-all fashion, clinicians will use information technology and medical genetics to provide a focused, individualized approach to health care.