Genomics in PA Practice - Page 1

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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.

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.

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.

Moving beyond the basics: Teaching the genetics of complex traits

Michael J. Dougherty, PhD May 21, 2010

Genetic testing has rapidly expanded to include screening for thousands of genetic variants associated with common complex diseases.

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.

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.

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.

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.

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.