Integrating Genetics into Your Practice
“Incorporating genetics into primary care involves a shift of paradigm in medical thinking… It involves thinking about the genetic makeup of each individual in every encounter to develop differential diagnoses for disease or for preventive counseling.
In this scenario, child health providers will need to incorporate a new approach to primary care, with emphasis on certain skills, and also will need to be reeducated and updated on new knowledge in genetics.”
- “Primary Care Pediatrics: 2004 and Beyond”; Pediatrics, Vol. 113 No. 6 June 2004, pp. 1802-1809
Pediatric primary care physicians are in an ideal position to evaluate and treat patients with genetic diseases. The potential roles of primary care providers in genetic medicine can include:
- Identifying individuals who may benefit from genetic services
These individuals include those with a genetic disorder, as well as those at increased risk for having or transmitting a genetic disorder.
- Recognizing historical and physical features of common genetic conditions
- Monitoring the health of individuals with a genetic disorder
Primary care providers in collaboration with appropriate subspecialists work to monitor the health of patients with a genetic disorder or those with an increased risk for having a genetic disorder.
- Providing basic genetics information to patients and families
By providing information regarding genetics to patients and families, primary care providers are able to help their understanding and informed decision making.
- Providing a medical home
Individuals with complex genetic service needs can have a large care team that works together to meet the patient's needs.
- Recognizing the special psychosocial issues
For a family in which one or more members are affected with a genetic disorder or susceptibility primary care providers need to recognize and address relevant psychosocial issues.
- Possessing knowledge of how to access the full range of genetics services from which patients might benefit
- Appropriately referring patients
Primary care providers are in the position to know which patients with additional genetics services needs require referral and are able to refer appropriately.
- Facilitating the use of genetics services.
Integrating Genomics into Pediatric Primary Care: A Public Health Perspective
In this podcast Muin Khoury, MD, PhD from the Centers for Disease Control and Prevention provides and overview of genetic and genomic advances relevant to pediatric primary care providers and how they will impact practice.
The terms “genetics” and “genomics” may conjure images of rare genetic disorders, pedigrees, and specific tests ordered by experts. However, in our current era of scientific advances, a new era of genetic medicine is emerging.
Incorporating genetics into primary care warrants PCP to “think genetically” for all patient encounters, and be equipped with the skills and resources needed to solve new problems. A first step towards adopting this mentality may benefit from dispelling certain myths, or misconceptions, about genetics in primary care.
Myth: Genetics Just Deals With Rare Diseases
Truth: When comparing the incidence of what are thought of as "rare" genetic conditions to "rare" non-genetic disorder, the prevalence can be similar, indicating that not all genetic conditions are rare. For example, sickle cell disease (a genetic condition) has an incidence rate of 1:500, the same prevalence rate for neonatal sepsis (a non-genetic condition). In some instances, genetic conditions can be more prevalent than non-genetic conditions: cystic fibrosis (a genetic condition) occurs in one out of every 3,000 births compared to meningococcal disease (a non-genetic condition) that has an incidence rate of 1:200,000.
Truth: Patients can be referred to genetic specialists for many common indications, including short stature/failure to thrive, fetal anomalies/birth defects or family history of a condition.
Myth: Testing is Too Complicated and Too Expensive
Truth: While some genetic tests can be expensive, there are other less expensive options. For example, a karyotype or routine chromosome analysis can cost between $650 to $800, and a plasma amino acid test can cost about $270. These costs are comparable to some of the more frequently ordered tests, such as a thyroid function test that costs approximately $250 or a CT scan that can cost $1,000 to $1,500.
Truth: Private insurance and Medicaid coverage of more customary genetic tests has improved. Genetic testing laboratories are familiar with this and can also assist with obtaining pre-authorization.
Truth: Primary care providers are urged to seek guidance from a genetic specialist or testing laboratory if they are uncertain about genetic tests and costs.
Myth: A Genetic Diagnosis is Only a Label, It Doesn't Help Anyone
Truth: It is important to recognize that a diagnosis can be helpful for prognosis and anticipatory guidance. It can also be useful for planning treatment, when possible, as well as determining the potential risk for family members. In addition, a genetic diagnosis allows for information about conditions associated with the diagnosis.
Truth: Patients who are concerned about the possible risks a diagnosis poses to health insurance coverage and employment status can feel more confident knowing they are protected under the Genetic Information Nondiscrimination Act (GINA), a federal law that prevents the use of genetic information to make employment decisions, determine insurance enrollment or coverage, classify a genetic condition as a pre-existing condition, or require individuals or their family members to undergo genetic testing.
Truth: A genetic diagnosis can play an important role in reproductive planning. Genetic testing may show that the parents have a risk of recurrence in a future child of <1% for de novo of mutations. For couples with a 25% or 50% risk of recurrence, preimplantation genetic testing and prenatal testing can help families decide whether to proceed with or continue a pregnancy or to prepare for caring for a child who will be born with a genetic condition.
Myth: The Geneticist Doesn't Need My Help to Manage the Patient
Truth: Following the medical home model of care, primary care providers play a crucial role in the management of patients who have the potential for or have been diagnosed with a genetic disorder, especially since a multitude of conditions can accompany a genetic disorder.
Myth: Collecting Family History Takes Too Long and Doesn't Help Anticipatory Guidance
Truth: Although primary care providers do have time constraints, a study of family practice physicians found that it took only three minutes to take the family history of existing patients and six minutes for new patients.
Truth: More time-saving options for family history gathering include asking patients to complete forms at home or in the waiting room prior to the examination, using the Bright Futures checklist, integrating the family history into electronic health records or utilizing online resources.
Truth: Collecting family history can prevent serious consequences, including death, from an undiagnosed genetic condition not only in patients but family members as well who may be unaware they are carriers of a potentially life-threatening gene.
The medical home is a model of providing care to patients and families that is accessible; continuous; comprehensive; meets preventive, primary, and tertiary needs; family-centered; coordinated; compassionate; and culturally effective. The National Center for Medical Home Implementation offers resources for health professionals, families, and those invested in the creation of a medical home for all children and youth.
For children and youth with special health care needs (CYSHNC), an essential component of the medical home model is the care coordination that links children and families with appropriate resources and services.
The Medical Home Portal offers reliable information and resources to help physicians and parents care for CYSHCN, including pediatric genetics patients.
Empowering your patients with information and resources will improve your relationships and resources, information, and tools for your patients and their families can be found here.
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