Group 9: Jamie Abatemarco, Loejjie Estacio, Tetyana Gavrylenko, Dasom Kim, Gabriela
Navarro Cardenas, Talia Rosenbloom, Winey Yuen
The goal of Healthy People is to improve on the multifactorial features of health for all
Americans, and increase public awareness about health, diseases, and prevention.
Healthy People 2020 has added the new topic of genomics as an area that will help facilitate the
improvement of health and prevention of disease through the development of genetic screening
and diagnostic tools. After an extensive discussion, group 9 has been able to establish not only
the genomic goals and objectives in Healthy People 2020, but also the importance of genomics
specifically for nurses and student nurses like ourselves. Lastly, we considered possible
obstacles in the field of genetics that could potentially delay research and diminish patient care.
Genomics is incredibly important in nursing, mainly because nurses make up the largest group
of direct care providers and work most intimately with patients. Nurses function as the
intermediary between everyday patient care and current clinical and genetic research, which
makes them chief coordinator between the patient and all other providers of the healthcare team.
This means that in order for nurses to respond to the public’s genetic needs, they must have
competent genetic knowledge so that they may be able to identify, refer, educate, and provide
direct care for patients and their families.
Being at the frontline of patient care, nurses must automatically be able to identify red
flags in patients and their families that suggest inherited predisposition for genetic disorders.
This is only possible if nurses understand the most updated core genetic principles that will
inform his or her physical assessments. Presymptomatic identification is also possible through an
understanding of how to build a thorough three-generation family health history and construct a
pedigree using standardized symbols. Interpreting a family history can establish crucial
information about a possible predisposition to a disorder and allow for a number of valuable
intervention opportunities. Depending on a patient’s ethnicity and family, personal, and social
history, a nurse can determine sensitive or specific testing that will inform measures such as
early diagnosis, prognosis, risk prediction, prevention, and treatment for both rare and common
genetic diseases.
From there, a nurse must have genetic knowledge to be able to refer patients to
appropriate members of the healthcare team that will provide genetic counseling, follow-up
testing, and treatment as necessary. However, the nurses’ responsibilities do not end with a
referral, as they must then explain the specific and complicated genetic terminology to the
patient that is associated with their condition.
Nurses must be able to educate patients on how genetic findings inform diagnosis,
prognosis, and treatment so that patients may have the capacity and self-determination to be
active participants in their own care. Nurses must educate patients first and foremost that genetic
disorders result from a complex interplay between inherited genetic predisposition and
environmental and lifestyle exposures that can trigger changes in the epigenome. They can use
this information to support patient efforts to take an active role in reducing exposures and adopt
healthy lifestyles. Nurses must also teach patients how to build and interpret their own family
health histories. Additionally, nurses must help to clarify direct-to-consumer genetic testing
products and inform patients of their validity, reliability, and implications.
A credible and and accommodating flow of information will help to strengthen the
patient-nurse relationship and establish patient trust that the nurse can adequately care for a
patient’s individual needs. A genetically competent nurse will be more prepared to calm and
comfort patients, answer their questions, and most importantly, advocate for their rights. Not
only is comprehension of genetics necessary, but it is also imperative that nurses be familiar with
laws like the Genetic Information Nondiscrimination Act (GINA) that enforce the field. This
will allow nurses to best advocate for and educate about patients’ genomic rights, privacies, and
reimbursement opportunities dictated by the law. Through these measures, nurses allow for the
empowerment of the general population, which is a central goal in Healthy People for improving
health and preventing disease. When nurses are educated in genomics, they are able to educate
their patients. As a result, patients can then use their knowledge to make informed, autonomous
decisions about their own health plan.
Nowadays, more and more people are aware of the role of genetics in their health.
However, not enough people know of the benefits of genetic testing to help prevent, diagnose,
and accurately treat many diseases. The new Genomics topic in Healthy People 2020 includes
two objectives that gear the population to take advantage of the new technological advances in
Genetics and Genomics.
The first objective is to increase the percentage of females with family history of breast
or ovarian cancer that receives genetic counseling and testing. The second objective is to
increase the percentage of people with newly diagnosed colorectal cancer that receive genetic
testing to identify Lynch syndrome or familial colorectal cancer syndromes. The objectives are
based on scientific evidence that if these mutations are identified and appropriately treated, the
incidence of cancer is greatly reduced in both cases.
Testing for the BRCA-1 and BRCA-2 genes has become quite popular, and more and
more individuals at high risk have undergone testing for these genes. Similarly, more individuals
are undergoing testing to identify colon cancers. By taking an active role in their health, these
individuals have helped the entire population by providing evidence of the reliability and validity
of genetic testing tools as well as the success of treatments.
In order for people to take advantage of the health benefits that genetic counseling and
testing offers, interventions such as evidence based resources, clinical recommendations, and
consumer information has been made easily accessible. It is important to remember that the more
informed the population is, the more likely they are to participate in both the advancement of
science as well as the improvement of the lives of their loved ones.
While it is the current health care providers that can mainly implement Healthy People
2020 goals, student nurses must learn and apply genomic knowledge so that they can contribute
to its mission. Incorporating genetics could simply take form in taking advantage of their access
to genetic resources and information in classes, and exploring this information by formulating
informed, scholarly dialogues with classmates, professors, other healthcare professionals, and
even friends and family members. Engaging in these activities will prompt them to become more
actively involved in their own genetic history, thus increasing the likelihood of them taking
action for self-determination. It is however important handling genetic information with a
responsibility of making sure it is appropriate, reliable and accurate.
Additionally, it is crucial that student nurses stay up to date on current genomic concepts,
so that they can continue to build an accurate genetic scope through which they can view all
aspects of their nursing education and career. They also must be well-versed in the genetic
terminology, advancements, and current limitations of genetic techniques so that they can learn
the language of genomics early in their career; making them relay important information clearly
to the patients in their future practice.
While there are many ways that nurses and student nurses can advance the development
of new Healthy People objectives in genomics, there are some factors that could hinder them. As
of now, there is not much evidence-based research or studies done on genetic testing. As a result,
researchers have some difficulty with thoroughly evaluating and analyzing the health benefits
and harms of emerging genetic tests. There is a potential to cause harm by releasing a recent
medical breakthrough, altering medical care based decisions based on techniques that require
more evaluation. This includes a possibility of causing anxiety and extreme stress in a patient’s
life due to inaccurate testing results, practicing unregulated tests or treatments, and insurance
companies underwriting or increasing rates based on the new findings. A lack of accurate
knowledge about privacy, confidentiality, and benefits versus harms in genetic testing in the
general population also hinders the development of new genomic Healthy People objectives. As
more people become aware and informed of the current practices, genetic testing will be more
widely accepted and practiced, which will allow to move forward in developing new objectives.
Learning about genomics and staying updated to the latest information is crucial for
health care providers, and especially for current and future nurses. Since genomics is a recent
topic added to Healthy People 2020, there will be new findings and changes made constantly in
the coming years. As nursing students and future nurses, it is critical that we are able to educate
and provide updated information to patients so that we may advocate them to the best of our
ability. Not only will the information provided impact patients’ decision making, but it will also
affect their future health as well.