Specialists help educate patients and families on hereditary risk

05:09 PM CDT on Sunday, April 9, 2006

By SUSAN KREIMER / Special Contributor to The Dallas Morning News

Joanna Spahis remembers a time when Down syndrome patients lived until their 20s or 30s. Now, thanks to modern advances, they're reaching their 50s or 60s.

MILTON HINNANT/DMN

Joanna Spahis (right), a genetics clinical nurse specialist at Children's Medical Center Dallas, examines Alexzandria Rogers, held by her mother, Ida Mae Rogers.

"A lot of the heart defects weren't corrected at birth," said Ms. Spahis, 44, genetics clinical nurse specialist in the Down Syndrome Clinic at Children's Medical Center Dallas.

She stays up-to-date on the latest therapies, helping youngsters and their families lead more meaningful lives.

In recent years, genetic nursing has become a recognized specialty, educating patients about hereditary risk as well as the pros and cons of genetic tests.

"We are seeing more and more discovery of genetic mutations and combinations of genetic and environmental factors that contribute to commonly occurring illnesses," said Rita Black Monsen, 64, immediate past interim executive director of the Genetic Nursing Credentialing Commission.

"And we believe that all nurses should have a familiarity with genetics and the possibilities for gene-based diagnostics and therapeutics."

Recent developments in genetic testing have transformed nurses' roles in the identification and management of patients at risk for developing many diseases, according to The Internet Journal of Advanced Nursing Practice.

Tests are now available for "susceptibility genes" linked to breast, ovarian and colon cancer. And medical advances enable health professionals to better understand how genetic changes play a role in Alzheimer's, diabetes, mental illness and other disorders.

"The Human Genome Project, one of the most significant research endeavors of the 20th century, deserves much of the credit for the discovery of these new applications of genetic information," the nursing journal reports.

Although nurses have been involved in genetics since the 1960s, counseling children and families, the scope of their practice is much broader today.

New milestones have been reached during the last decade. In 1997, the American Nurses Association designated genetic nursing as an official specialty. And in 2001, the International Society of Nurses in Genetics (www.isong.org) approved formation of the Genetic Nursing Credentialing Commission (www.genetic nurse.org). The first 13 nurses, including Ms. Spahis, were credentialed that year.

To date, 37 nurses have received this distinction. Of them, 31 obtained the credential of advanced-practice nurse in genetics, which requires a master's degree in nursing and other qualifications.

The other six, educated at the bachelor's level, each were recognized as a genetics clinical nurse, said Ms. Monsen, a nursing education consultant who lives in Hot Springs, Ark. She estimates salaries for credentialed nurses to range from $50,000 to $100,000.

A new approach to credentialing takes into account the variety of genetic nurses' accomplishments. Instead of administering exams, the commission reviews portfolios.

These cumulative records demonstrate that applicants have sought out opportunities to enrich their knowledge in the specialty, Ms. Monsen said.

"There are lots and lots of resources for nurses to receive education in genetics not only online, but also in traditional campus-based programs and continuing education," she said.

A handful of colleges award a master's degree in this specialty. Others cover the subject in regular classes.

"I encourage faculty to incorporate genetics content into the curriculum from baccalaureate, master's and doctoral courses," said Dr. Marcia J. Hern, dean and professor at the College of Nursing at Texas Woman's University in Denton.

"Genetics is often referred to as a science of family connections, and every patient comes from a family. Every nurse should be able to take a detailed family history and draw a three-generation pedigree as part of their daily best practices."

Incorporating genetics into nursing practice fosters optimum care for mothers and babies, said Janis Biermann, vice president for education and health promotion at the March of Dimes.

The nonprofit organization, based in White Plains, N.Y., has produced a continuing education module in print format, "Genetic Issues for Perinatal Nurses."

Another program, "Genetics & Your Practice," is available on CD-ROM and online. Aimed at a variety of health professions, it illustrates step-by-step processes for taking an accurate family history, conducting genetic screening and referring patients for services.

The book and CD-ROM each cost $20, and the online instruction is available at no charge. (Call 1-800-367-6630 to order.)

"We will continue to provide current information to nurses on the topics of genetics and genomics in order to improve the preconception health of women and optimize birth outcomes," Ms. Biermann said.

At Children's Medical Center, Ms. Spahis makes recommendations according to a preventive medical checklist. She ensures that children have the necessary tests and routine care by medical specialists and therapists based on their ages and specific needs.

Ms. Spahis is also a consultant on Down syndrome in newborns born at Parkland Memorial Hospital in Dallas.

"Down syndrome is a chromosomal disorder that occurs due to something we call nondisjunction," she explained. "That means failure of the chromosomes to separate at the time of conception. It's an accident of cell division."

She also believes in educating her peers about the relevance of genetics to their practices.

Ethical issues delve into giving nondirective or unbiased counseling, the genetic testing of minors, providing fully informed consent beforehand, and whether to disclose information to family members who are at risk for diseases when they may not want to know.

"I have written a number of journal articles on genetic topics that nurses can take for continuing education credit," Ms. Spahis said.

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