GEN-ARM CD-ROM FOR NURSING GENETICS

Edition MSGN-TX-1 (April, 2007) ISBN# 0-9769552-1-0

Authors: Golder N. Wilson MD PhD,1 Vijay Tonk PhD,2 Joanna K. Spahis MSN, RN, APNG 3

Reviewers: Shirley Karr BSN RN,4 Shirley Myers RNC, MSN, FNP,5, and Sherry Letalian RN6

1Clinical Professor of Pediatrics, Texas Tech University Health Science Center at Lubbock and Private Practitioner, KinderGenome Genetics, Dallas Texas

2Professor of Pediatrics and Obstetrics-Gynecology; Director, Cytogenetics Laboratory, Texas Tech University Health Science Center at Lubbock

3Pediatric Clinical Nurse Specialist in Genetics and Coordinator of the Down Syndrome Clinic, Department of Genetics, Children’s Medical Center of Dallas

4Genetics Coordinator, Maternal-Fetal Medicine and Genetics, Texas Tech University Health Sciences Center at Amarillo

5Women’s Health Nurse Practitioner, Maternal-Fetal Medicine and Genetics, Texas Tech University Health Sciences Center at Amarillo

6Pediatric Clinic Coordinator, Department of Pediatrics, Texas Tech University Health Sciences Center, Lubbock

Made available through the Mountain States Region Genetics Collaborative Center. Membership and other information about MSRGCC can be obtained at www.mostgene.org or by contacting Ms. Joyce Hooker at

This CD was first developed under the auspices of GENARM (GEnetic Nursing Network for Assessment Referral and Management), a pilot project for nursing education funded by the Mountain States Region Genetics Collaborative Center (MSRGCC), executive director Joyce Hooker MS, in 2006. The original content was developed by authors Golder N. Wilson, Vijay Tonk, and Nurse Joanna Spahis, edited by Shirley Karr Shirley Myers, and Sherry Letalian; much of the content was updated from the book Wilson GN: Clinical Genetics: A Short Course (2000); New York: John Wiley & Sons, by release of the publisher.

Use and contents

The revolution in genetic technology has reached the clinic in various ways, emphasizing the need for all health professionals to recognize and refer patients with genetic concerns. Since genetic counselors and medical genetic specialists are available only at larger medical centers or genetic-oriented practices, the role of genetic disease recognition and referral often falls to generalists and non-genetic specialists. This GEN-ARM CD is intended as a tool kit to recruit and inform nurses as genetic advocates, and all materials have been reviewed or created by nurses to ensure appropriate terminology and focus:. It is a dynamic entity, tailored for each genetic collaborative and state and regularly updated for contacts and resources. These tools are intended for modification and distribution by all nurses consistent with the goal of promoting genetic awareness and referral; they are neither copyrighted nor intended for sale beyond recovery of duplication/mailing costs. This GEN-ARM CD (edition MSGN TX-1; Jan, 2007) contains the following tools:

1. A brochure that can be distributed to health care organizations to encourage appointment of nursing genetic coordinators and sharing of genetic resources including this CD-ROM

2. A nursing genetic primer that highlights relevant case presentations and assessment/referral guidelines. The introductory cases are followed by chapters on clinical genetic topics, including case-oriented problems that aid review of important concepts.

3. A dysmorphology checklist that can be used to document minor anomalies on physical examination

4. A genetic resource directory that includes local, state, and national contacts including the regional Genetic Collaborative.

5. A group of power point presentations on nursing genetics that are designed for in-service and outreach education.

Rationale:

The Genetic Nursing Network for Assessment, Referral and Management (GEN-ARM) was initiated as a pilot project for nursing genetic education, recognizing that nurses are more numerous than genetic specialists and particularly well-positioned to mediate genetic information. Nurses are the initial contact for many families and patients, and their traditional roles in education and prevention are ideally suited to chronic disease. Nurses have enormous potential for recognizing genetic disorders and can be key elements in the transition of clinical genetics from esoteric specialty to mainstream medical care.

The nursing emphasis on health is well-matched with the impact of early or ancestral diagnosis on anticipation or amelioration of genetic disease. The use of genetic technology first requires identification of suspect patients, allowing anticipation of associated problems, preconception/pregnancy counsel, and amelioration through dietary treatment or preventive management. Nurses can be prime architects of the medical homes that genetic patients so sorely need. Missing links in nursing genetic care include the lack of genetic teaching in nursing schools and the perception of genetics as an esoteric specialty with little relevance to nursing practice. The GEN-ARM CD rebuts these fallacies and emphasizes the ease and value of nursing genetic care.

Brochure and primer:

The nursing genetics brochure and primer are designed to convince nurses in all fields that genetics is a relevant and simple addition to their medical knowledge and daily routines. The brochure encourages health care organizations to designate nursing genetic coordinators, who then can request a free GENARM CD to foster genetic disease recognition and referral at their institution. The brochure and primer illustrate key genetic presentations in each nursing discipline so that nurses will recognize the relevance of genetics to their practice. The primer reviews these key presentations in its opening chapter along with simple strategies for their assessment and referral. Nurses with greater interest in genetics are directed to subsequent discussions of clinical genetic principles appropriate to their selected cases. As an example, the neonatal nurse who recognizes the child with cleft palate as relevant can quickly incorporate the distinction between single defect and syndrome, then proceed to expanded discussion of syndromes or chromosome disorders as their interest dictates. The didactic chapters include review problems with answers and solutions that reinforce clinical genetic principles. Summary “examinations” in pediatric, obstetric, or adult genetics are drawn from these review questions, allowing nurses to complete and submit these examinations for endorsement of genetic expertise.

Genetic resource directory:

Each GEN-ARM CD has a dynamic genetic resource directory that includes referral and information contacts, educational opportunities, and disease information/parent group websites. Opportunities for formal coursework in clinical genetics (with CNU credits) are listed, including the highly informative International Society of Nurses in Genetics (ISONG) website. Like other tools on the GEN-ARM CD, each resource directory is dynamic with periodic updating of local specialists and contacts including nurses who volunteer to be genetic coordinators for their institution. Central to this activity is the regional genetic collaborative like that of the Mountain States that originated the GEN-ARM concept and materials.

Clinical genetic presentations:

Power Point slide shows are keyed to genetic case presentations in the brochure/primer and to the relevant chapters on clinical genetics. They are intended for nursing in-service or outreach meetings and include case-oriented problems at the end to reinforce learning objectives. The menu of presentations will vary by GEN-ARM edition and locale. Included on this CD:

Genetics for Nurses in Pediatric Disciplines (G Wilson, J Spahis, S Letalien)

Genetics for Nurses in Obstetric Disciplines (G Wilson, S Karr, S Myers)

Genetics for Nurses in Adult Disciplines (G Wilson, V Tonk)