Genetics Oncology Nursing: Interview with Deborah MacDonald, Ph.D., APNG

My Specialty

Genetics Oncology Nursing: Interview with Deborah MacDonald, Ph.D., APNG

By Mariah Williams
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Working Nurse: What is your nursing specialty?

Deborah MacDonald, PhD, APNG:
I am credentialed as an Advanced Practice Nurse in Genetics (APNG). I was recruited to City of Hope in January 1997 to assist Jeffrey N. Weitzel, MD, in establishing the Cancer Screening & Prevention Program for the Department of Clinical Cancer Genetics. I previously set up the Risk Assessment Program at the Massachusetts General Hospital (MGH) in Boston.

How did you first get into this area of nursing and what training did it require?

I received a Federal Nurse Traineeship Grant to support obtaining an MS degree specializing in genetics and developmental disabilities. Immediately after graduation in 1992, I was hired by a physician researcher at the MGH Cancer Center to work on a project seeking to identify the genetic code for the BRCA1 gene.

We recruited more than 400 women with breast cancer prior to age 40, obtained medical and family history, enrolled the women in the study, drew lab samples, and maintained the database. In 1996, we published in the NEJM the first paper on the BRCA1 gene 185delAG mutation, common among Jewish women with early onset breast cancer.

Since moving to California, I returned to school once again and obtained a PhD in nursing, specializing in bio-behavioral research related to cancer genetics and risk communication in families.

How long have you worked for the City of Hope?

Since January 1997. Given the clinical and research history at City of Hope, this was a great opportunity for me to work with Dr. Weitzel and to collaborate with senior researchers such as Dr. Marcia Grant and Dr. Betty Ferrell—the warm weather was also hard to resist!

Please describe a typical day in this specialty.

About one day a week, I see patients for genetic cancer risk assessment. This includes the full spectrum of genetic counseling: taking a medical history, at least a three-generation family history, discussing healthcare implications for the individual and family, determining the probability of a single gene cause of the cancers in the individual, and initiating genetic testing if medically indicated to help guide risk-management for prevention of an initial or subsequent primary cancer. In addition, I facilitate insurance coverage for the test, including writing a letter of medical necessity if needed, obtaining informed consent for testing, enrolling in our cancer research registry and providing psycho-social support.

Whenever possible, genetic testing is initiated with the person who is most likely to carry a genetic mutation—the one with early onset cancer. Then, if a mutation is identified, genetic counseling/testing can be offered to other at-risk family members to determine if they inherited the mutated copy of the gene or the normally functioning copy (50/50 chance), and thus guide risk management for these relatives, based on whether they are found to be high-risk for an early onset cancer or as low as general population risk.

My work involves many different functions of our department’s clinical, research, and educational arms. Some days, my work is focused on the clinical follow-up of the patients I see and obtaining the data required for the multiple research studies we conduct related to the genetic, biological, and behavioral aspects of cancer, including following patients/families over time, assessing the impact of risk information on their healthcare choices and identifying genetic risk markers. For instance, we have identified several genetic mutations that are more common to Hispanic families—this could lead to the development of targeted genetic screening for persons of Hispanic descent.

We recently completed a risk-reduction study for women who are BRCA positive who have not had breast cancer, and are developing a decision aid to help BRCA positive women with breast cancer make risk-reducing decisions. My own research is focused on family communication of genetic risk. We also have a multidisciplinary case management conference each week, where all cases are presented for consensus regarding means to identify the underlying cause of the cancers in the person and/or their family, and determining appropriate care. We have a network of clinics ranging from our home base in Duarte, California to as far as Idaho, where cases are presented via teleconferencing.

Other responsibilities include oversight of the clinical operations, writing or assisting with grant proposals to obtain funding for research projects and manuscripts related to our research or educational efforts. In addition, I facilitate learning experiences for the genetic counseling students who rotate through our department to learn about cancer genetics, and those of the genetic counselor, advanced practice nurse and physician fellows who are with us for one to two years of training. I also give presentations related to cancer genetics to other health professionals and the lay public—for instance, I was invited to present regarding our work at a genetics conference in Brazil next month and gave a colorectal cancer risk talk to local community center last month.

What do you like most and least about this specialty?

The variety of my workweek and the advancements in the field of cancer genetics are exciting and keep me motivated. It is challenging to accomplish everything I would like to in even a 10-hour day!

What advice do you have nurses who are interested in entering this specialty?

Genetics provides a myriad of opportunities for nurses at all educational levels. Talk to nurses working in the field. Some genetic nurses concentrate on lab-based work, while others are mainly involved in clinical care or educational efforts.


City of Hope
International Society of Nurses in Genetics (ISONG)

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