Table 4 Recommendations for the process of delivering a SCM diagnosis
Prepare for the Visit | • Inform yourself about the specific diagnosis prior to the communication • Resources for providers are offered in Table 2 • Partner with a genetic counselor who is well-equipped to explain genetic underpinnings and specific information according to SCM |
Mode and Manner of Delivery | • Allow enough uninterrupted time to spend with patients/families • When possible, deliver the diagnosis in-person or by Telehealth technology rather than over the telephone • If circumstances prohibit in-person delivery, the diagnosis should be communicated when the parent is in a quiet and confidential location • Providers should proactively inquire as to whether the parent wishes their child to be present when the diagnosis is delivered |
Parent Questions & Concerns | • Begin the visit by inquiring about their specific concerns and questions • Check back frequently to be sure that information is being understood • Suggest that this conversation may be ongoing and may need to occur over more than one visit to allow parents time to process the diagnosis and determine their questions • Provide reassurance that the child’s health and well-being is the primary focus of care |
Explanation of SCM Condition | • Provide a brief and clear explanation of the specific SCM condition and describe any additional special health surveillance that might be required • Direct patients and families to well-vetted and accurate information sources such as www.genetic.org or https://rarediseases.org/ • Advise patients and families to be cautious about receiving information from general search engines and social media sites • Provide supportive reference material ideally written in lay language |
SCM Prevalence & Genetics | • Become familiar with prevalence by SCM: 47, XXY (1 in 600), 47, XYY (1 in 1000),47, XXX (1in 1000) and 48, XXYY (1 in 80,000) • Explain that physical, behavioral, and psychosocial features vary among the SCMs and among individuals • Explain that the SCM is a random event during egg and sperm development and that it was caused by anything the parents did or didn’t do before or during the pregnancy • Be prepared to offer a warm hand-off to a genetic counselor for more information |
Follow-up Care and Next Steps | • Inform parents of medical management and health surveillance recommended for the specific SCM • Be proactive in assembling a team of specialists for referrals as required |
Additional Support Considerations | • Be ready to refer parents and individuals to the national advocacy organization (AXYS) and for social support through regional and local support groups • Referral to a professional counselor may be beneficial for additional emotional processing of the diagnosis • During the course of the child’s care, be prepared to counsel parents about how they would like to disclose the diagnosis to their child, to family members and to others |