With the growing complexity of health care, interprofessional communication and collaboration are essential to optimize the care of dental patients, including consideration of genetics. A dental case exemplifies the challenges and benefits of an interprofessional approach to managing pediatric patients with oligodontia and a family history of colon cancer. The interprofessional team includes dental, genetic, nutritional, and surgical experts.
Application of genetic knowledge to clinical practice is an essential part of interprofessional collaborative practice.
Interprofessional teams are required to optimize the implementation of genetic technology and information to the total health needs of patients.
Interprofessional communication improves optimal care for all patients because of the common language among health care providers.
Opportunities for genetic education as part of an interprofessional team approach are essential for not only oral health care providers but all health care providers.
Given the growing complexity of health care, there is an increasing need for a collaborative approach among all health care providers in providing effective patient care. Interprofessional communication and collaboration are especially essential in the combined use of genetic analyses/counseling and how specific genotypes/phenotypes manifest poor oral health outcomes. However, dental clinicians often do not have appropriate training to interact with genetics teams in terms of proper consulting strategies, and often genetic counselors are not fully aware of oral manifestations of genetic diseases. As such, there is a growing need for more effective strategies of communication and collaboration between the two disciplines. In addition, patients or their representatives face the challenge of communicating between the two clinical advocates. A lack of an integrated health care record, and separate billing and reimbursement programs, compound the difficulties of getting appropriate clinical care.
Dental education in the United States has traditionally developed along the independent health educational paradigm. The training of students within independent and isolated educational systems contributes to poor communication and inadequate collaboration among clinicians in distinct health disciplines. This situation can result in poor, and in some cases inadequate, patient care in areas that span traditional care areas of health disciplines. This is evident in the emerging field of clinical genetics. Dentists often do not receive training in human genetics and are not prepared to interpret new developments that may support previous observations. The advent of sequencing the human genome has resulted in genetic testing, including some offered direct to consumers and direct to consumers through clinicians, which has created challenges to health care professionals in general because many developments have surpassed clinical training. Challenges include whether genetic testing is available for certain conditions as well as whether the genetic tests offered are valid and useful. In many cases, determination of the clinical validity and utility of genetic testing requires experts from different disciplines. The need for dentists to collaborate interprofessionally is clearly shown in genetics. This article describes an innovative model for integrating genetic counseling and how it applies to the oral and overall health of patients within an interprofessional collaborative practice setting by using a case approach.
An interprofessional case study of genetics in health care
A third year dental student is seeing a new patient in her community clinic. Her 14-year-old patient, Sarah, was brought to the clinic by her mother who is concerned that Sarah still has some of her baby teeth, whereas her younger sister has her permanent teeth. The dental student takes a panoramic radiograph and informs Sarah and her mother that Sarah has oligodontia (congenital absence of some of the teeth), because she is missing several molar teeth as well as all eight premolar teeth. The student discusses:
The need to wait to do dental implants until Sarah’s jaw is more fully formed.
Other restorative options to ensure that she has minimal issues with esthetics and function within her oral cavity.
Sarah’s mother comments that other relatives also have missing teeth, and says that she is worried that Sarah will die like her grandfather and his mother of colon cancer, because everyone in the family without all their teeth seem to die of cancer. Not knowing how to respond, the dental student reassures her that her teeth can be treated, and advises her not to worry about things that happen to older family members.
That night, the student has a nagging feeling that she gave her patient the wrong information. She therefore uses Google to check for more information. She searches on “oligodontia AND colon cancer.” The first three listings are for genetic changes associated with the combination of oligodontia and colon cancer. The next day, she discusses the case with her preceptor and realizes that she needs help to give the best information to this patient. They discuss her next step and it is decided that they should find a clinical geneticist. The preceptor does not know of one, so the student decides to try to find one. She goes back to Google and enters “How to find a geneticist” and an entry from the National Library of Medicine and the American College of Medical Genetics and Genomics are the first two links. She chooses the top site on the list and goes to the National Library of Medicine site. Opening this web page shows a link to the National Society of Genetic Counselors. Once on the NSGC.com Web site, she enters the city name and finds a genetic counselor’s phone number. She decides to call and talk to the genetic counselor. Another resource she saw was The National Institutes of Health Genetics Home Reference at https://ghr.nlm.nih.gov/ , which added to her understanding of the people involved with genetic testing and health care.
The genetic counselor who takes the dental student’s call is slightly surprised, but extremely pleased by the student’s approach to further identify resources for her patient’s total health and well-being. They discuss the patient’s concerns and the genetic counselor, who, like many, works at the local children’s hospital, recognizes that this patient would be best served by being evaluated by a genetic counselor trained in cancer and a medical geneticist (a physician who is trained to identify mild dysmorphisms which can be helpful in identifying an inherited syndrome). Together, they decide to refer the young patient to the medical geneticist and cancer genetic counselor at the children’s hospital, because other locations with a cancer genetic counselor do not have a genetic physician to evaluate her noncancer concerns. So far, this approach seems to be forming a foundation for an interprofessional collaborative (IPC) approach to the care of her dental patient.
Cancer Genetic Counselor
On the day of the young girl’s appointment, the genetic counselor begins the visit by discussing her concerns and reviewing her family history with the patient and her mother. A full 4-generation pedigree is created ( Fig. 1 ). Based on the history, it seems that the oligodontia is autosomal dominant, consistent with a single genetic change leading to the cause. Furthermore, most of the family members with oligodontia did have a cancer diagnosis in their lifetime. However, within the pedigree there was a female relative with normal dentition and breast cancer in her 60s and a male relative with normal dentition with colon cancer in his 70s. The patient’s mother is 35 years old, missing her maxillary lateral incisors and third molar teeth, and has no history of screening for colon cancer. Of the ten family members with oligodontia, six had colon polyps diagnosed on their first colonoscopy at age 50 years, and two had colon cancer diagnosed at age 50 years on their first colonoscopy.
Because the patient is 14 years old, her mother asks when Sarah should have her first colonoscopy. The counselor informs her that Sarah should begin screening at 40 years, because this time period precedes the diagnosing of her other family members. In addition, the genetic counselor suggests specific genetic testing for markers of disease and their risk of phenotypic expression.
The next member of this IPC team is the medical geneticist, who performs a dysmorphology examination looking for mild physical findings that could focus the differential diagnosis for colon cancer and oligodontia in this family. Oligodontia has been associated with brain malformation disorders, disorders of the respiratory system, cranial facial syndromes, dermal syndromes, ophthalmic syndromes, skeletal disorders, and genitourinary syndromes. Examples such as ectodermal dysplasia, orofaciodigital syndrome 1, and Mulvihill-Smith syndrome can be found at the Genetic and Rare Diseases Information Center, starting with the center’s Web site ( https://rarediseases.info.nih.gov/gard/ ). Based on the normal examination, developmental history, and medical history, except for the dental findings, the geneticist and genetic counselor recommend sequencing of the axis inhibition protein, a protein that is encoded by the axin-related protein ( AXIN2 ) gene. Activating mutations in the AXIN2 gene lead to overactivation of the proto-oncogene protein Wnt (WNT) signaling pathway and can lead to severe tooth agenesis and abnormal B-catenin regulation, leading to increased risk of colon polyp formation and subsequent colon cancer. However, because other genes have been associated with colon cancer (as reviewed by Bonds and colleagues ) and can affect colon cancer risk, it is deemed necessary to look for genetic changes in AXIN2 to determine her cancer risk and identify her need for cancer screening.
Based on her family’s history of colon cancer at early ages, the patient’s mother is referred to a colorectal surgeon for routine colonoscopy screening. Based on her clinical findings, he will follow her yearly for evaluation with colonoscopy every 1 to 5 years. He agreed with the genetic councelor’s recommendation to begin screening for the 14-year-old 10 years before the youngest age a family member was identified with polyps.
The colorectal surgeon refers the patient to a dietician to optimize her overall colon health. She recommends a high-fiber diet and they discuss how she can implement these diet changes for herself and how to communicate this information to her extended family. Because of the oligodontia, identifying high-fiber foods that she can also tolerate with her current dentition and after cosmetic repair is also extensively discussed.
While awaiting the AXIN2 testing results, the patient returns for her 6-month dental cleaning with her dental hygienist. After Sarah informs her of the pending tests, the hygienist calls the dental student to ask whether there are other considerations or worries for this patient. They discuss the need to maintain the primary teeth until implants can be placed. If the baby teeth are lost, Sarah may need a removable partial denture to maintain the premolar space, enhance esthetics, and allow better chewing.
The patient was found to have a single base pair change in one of her AXIN2 genes. This mutation changes an amino acid codon to introduce a stop codon, leading to low production of AXIN2, dysregulation of B-catenin, and activation of the WNT signaling pathway. Her mother had the same genetic change. Based on this genetic finding, the mother was advised to begin colonoscopy and Sarah was advised to begin colonoscopy at age 40 years. A noncancerous polyp was identified at her mother’s first screening. If the polyp had not been identified by the screening guidelines, then the polyp’s cells would likely have changed and become cancerous over time suggesting the screening guidelines helped.
The dental student applied an astute knowledge-seeking approach using an IPC model to improve not only her patient’s current and future dental health, but also her overall health-related quality of life. This approach exemplifies a well-thought-out IPC model that enables health care providers to deliver patient-centered care using a common thread of communication and treatment hierarchy design. The model presented applies the latest in science, technology, and genetics in order to meld with oral health care for total health. This model is the future of good clinical practice among not only dental practitioners but all health providers because it is essential that they have access to and identify referrals appropriately based on the specific disease of interest. Further insight can be obtained from Johnson and colleagues and Depaula and Slavkin.
Current Educational Practices
How can interprofessional education and IPC practice (IPCP) be made a reality? Although each health care program and profession will find its own answer to this question, some common threads are now in place. The new accreditation standards for predoctoral dental programs state that “Graduates must be competent in communicating and collaborating with other members of the health care team to facilitate the provision of health care,” and make clear that interprofessional education is expected to play an important part in dental curricula. As the entering students use their technical knowledge to answer important clinical questions, the interaction with genetic colleagues will expand to allow better patient care.
Role of Interprofessional Relationships in the Care of Genetic Patients: Current and Future Directions
Genomic discovery has significantly changed the understanding of genetic architecture, and has led to new understanding of the complexity of gene-gene and gene-environment interactions. This change has clinical implications for diagnosis and treatment strategies, particularly for common, multifactorial conditions. Surveying US dental schools on their inclusion of genetics education revealed that most schools do not teach a human genetics course. Thus, the combination of low baseline genetic literacy and little understanding of the interprofessional resources available can lead to poor patient care. It has been shown that poor interprofessional collaboration can negatively affect delivery of health services and patient care.
In 2003, Guttmacher and colleagues foretold the practical applications from the whole-genome project. As genetic technology, the application of genetic knowledge will be an essential part of an IPCP approach in patient-centered care. With modern clinical technologies becoming available to patients, it has become crucial that interprofessional teams form to optimize the implementation of this information on patient care. Misuse of genetic information has led to misrepresentation of clinical risks, mismanagement of patients, overdiagnosis, and underdiagnosis. Thus, patients with genetic variations are at especially high risk of being mismanaged without the support of an interprofessional team that understands their unique needs and can optimize their oral and general health outcomes.
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