Rare conditions: Where do primary care and genetic diseases intersect?

In an age of information overload, clinicians may feel overwhelmed at the idea of devoting attention to rare medical conditions that are often handled by specialists. Tongue-twisting names such as epidermolysis bullosa, pseudoxanthoma elasticum, and Weill-Marchesani syndrome serve to further discourage some from making it past the obscure titles. With more than 7,000 recognized rare conditions, what should clinicians know and where should they start?


Obtaining a family history A specific genetic diagnosis in a patient's chart raises an obvious red flag, but it is still important to take a family history of all patients. This may uncover information that the patient would not otherwise have offered that may impact his or her medical management. Patients may share information with their provider about family members who have common conditions, such as high cholesterol or hypertension,¹ or rare conditions, such as a cousin who died from Tay-Sachs disease. Each of these facts will generate its own discussion. If your patient wants to further explore the implications of having a cousin with Tay-Sachs (such as whether he could be a carrier), consider a referral to a local geneticist or genetic counselor.


Caring for patients with genetic conditions Although patients with rare genetic conditions may receive the majority of their care through specialists, they often continue to see a primary care provider for common health concerns as well as for coordination of their care. Since common illnesses, even those as simple as the flu, can have dramatic consequences for people with specific genetic conditions, maintaining ongoing, open communication with all health care providers caring for your patients is crucial. The primary care office is often the hub of care coordination, so being familiar with genetic specialists relevant to your patients' genetic conditions and having access to reliable and valid resources will help you provide the optimal care. 


Educating your patient When a diagnosis is made, both you and your patient will want to learn more about the condition. With a stroke of luck, you may have learned about it while in school; but with the fast pace of scientific discovery, is the information you learned still correct? How can you know? This assessment is complicated by the fact that, by definition, rare diseases affect fewer than 200,000 people in the United States, which may mean information on the condition will be difficult to find. In order to facilitate assessment of the quality of information available on genetic disorders, the Access to Credible Genetics Resources Network developed a tool to help both health care professionals and patients evaluate materials. Trust It or Trash It? (www.trustortrash.org) is an interactive tool that prompts users to review information using these questions: "Who said it?""When did they say it?""How did they know?" Familiarizing yourself with these questions will better equip you to determine which materials to use in your own clinical preparation and will help your patients understand how to assess the information they find on their own.


What to know about testing As knowledge related to both rare and common genetic conditions continues to grow and becomes more accessible, patients may come to you with questions about testing for genetic conditions, such as "What does this test look for?" and "Is it 
a test I should have?" The gamut of genetic tests is wide and includes diagnostic tests for symptomatic and presymptomatic patients, those who are planning a pregnancy, those offered based on newborn screening results, and more.² In addition to the growing base of scientific knowledge, media attention to genetic testing, particularly direct-to-consumer genetic testing, is growing. Until genetic testing is regulated and the Genetic Testing Registry is implemented, no single comprehensive source exists to learn about all of the appropriate genetic testing options for your patients. 


The future of genetics and primary care Patients with genetic conditions historically have been referred to clinical genetics specialists or other specialists to manage their health concerns independent from the care they receive from their primary care provider. The number of known conditions with a genetic component will continue to grow, as will approaches to facilitating the incorporation of genetics into primary care. The development of valid, practical, and easily accessible data resources, improved communication between primary care and specialist services, and the continued evolution of genetic-specific skills will improve the management of patients with rare disorders. With genetics and personalized medicine emerging as the way of the future, genetics will become more integrated with primary care. JAAPA


Sharon Terry is the president and CEO and Alyson Krokosky is the genetics resources and services manager at Genetic Alliance in Washington, DC. The authors have indicated no relationships to disclose relating to the content of this article.

REFERENCES


1. Plat AW, Kroon AA, Van Schayck CP, et al. Obtaining the family history for common, multifactorial diseases by family physicians. A descriptive systematic review. Eur J Gen Pract. 2009;15(4):231-242.


2. Burke W. Genetic testing in primary care. Annu Rev Genomics Hum Genet. 2004;5:1-14.