Ongoing advancements in genetic technology and bioinformatics are increasing our knowledge of genomic variation and human health. Next-generation sequencing technologies can help identify the causes of numerous genetic disorders. Genetic testing provides information about a diagnosis, its prognosis and medical management, and information about the risks to future offspring or other family members. Genetic counselors and clinical geneticists continue to help tailor the complex information gained from next-generation sequencing for patient care. The hope is to usher in an era of “personalized medicine,” in which genetic information is used to make more precise medical decisions and diagnoses.
Rare Disease Day, which takes place on February 28, is a good time to reflect on how next-generation sequencing is helping to identify the genetic bases of many rare diseases, providing patients and families with answers after enduring lengthy and expensive “diagnostic odysseys.” According to Global Genes, a prominent advocacy group with a mission to eliminate the challenges of rare disease, the US classifies a rare disorder as one that affects fewer than 200,000 people. In total, there are about 7,000 recognized rare disorders, approximately 80% of which are caused by genetic mutations and roughly half of which affect children.
Rare diseases often have considerable psychosocial and financial impact. Patients and families experience delays in diagnosis, isolation (given the rarity for these disorders), and feelings of hopelessness due to poor prognosis and lack of available treatment options. This hopelessness may even be reinforced by family members and other healthcare providers. For these reasons, it is important that patients and families with rare genetic diseases be provided empathetic counseling as they work with their clinicians.
While treatment options for rare genetic disorders are severely limited, diagnoses in themselves often become an important part of the lives of the patients and their families. Benefits of a genetic diagnosis include ending the diagnostic odyssey, an explanation for a patient’s differences and medical problems, and insight into prognosis, management and inheritance. Many families perceive a rare diagnosis negatively, and some of these experiences may be influenced by how information is communicated to families; however, diagnoses can provide families with opportunities beyond medical management. In my counseling work, I strive to help families understand and adapt to rare diagnoses and serve as a main resource for educational and psychosocial needs. In working with many patients with rare genetic disorders, I have found some strategies to aid them in adapting to new rare disease diagnoses. These strategies drew inspiration from meaning-making approaches discussed in the grief counseling literature and were presented in an article entitled “Exploring the genetic counselor’s role in facilitating meaning-making: rare disease diagnoses,” recently published in the Journal of Genetic Counseling.
The situations that families may encounter with rare disease diagnoses are challenging and often life-changing. It is normal for patients and families to experience grief and hopelessness, but I would caution against healthcare providers adopting a similar tone. These patients need advocates and people on their side. There are ways in which healthcare providers can confront these feelings and help families, including discussing rare diseases using language that emphasizes hope and empowerment. Meaning-making strategies may help reframe a diagnosis into an opportunity for growth and empowerment, encouraging patients and families to become experts and advocates for the disease. These strategies are further discussed in the Journal of Genetic Counseling article. The goal is to help families explore and find meaning in their particular circumstances, aiding their adaptation to them. These strategies could be used by myriad healthcare providers as they care for patients with rare diseases.
Next-generation sequencing technologies will continue to revolutionize diagnosis of rare genetic disorders and will have an expanding role in other areas of healthcare. We are entering an age in which we can generate huge amounts of data from a particular person, but it will be important to not lose sight of that person amid the deluge of information. The complexity of genetic information will continue to grow, and it will be important for genetic counselors, geneticists and other healthcare providers to address these complexities in empathetic ways. For rare diseases in particular, these providers will continue to be advocates for patients and families.
Information and resources for rare disorders can be found at the following sites: