Parents’ expectations,preferences, and recall of germline findings in a childhood cancer precision medicine trial

Background

Germline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child’s and family’s future cancer risk. Understanding parents’ perspectives of germline genome sequencing is critical to successful clinical implementation.

Methods

A total of 182 parents of 144 children (<18 years of age) with poor-prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child’s results, including clinically relevant germline findings (received by 13% of parents). Parents’ expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty-five parents (of 43 children) were interviewed in depth.

Results

At trial enrollment, most parents (63%) believed it was at least “somewhat likely” that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child’s genome sequencing results by their child’s clinician.

Conclusions

Many parents of children with poor-prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results.     

Balanitis xerotica obliterans: a review of diagnosis and management

Balanitis xerotica obliterans (BXO), or penile lichen sclerosus, is a progressive sclerosing inflammatory dermatosis of the glans penis and foreskin. It is associated with significant morbidity and may result in impaired urinary and sexual function. It was initially described by Stuhmer in 1928, named after its pathological features, and is considered the male equivalent of vulvar lichen sclerosis (LS).^3,40 The etiology of BXO is uncertain; however, autoimmune disease, local trauma, and genetic and infective causes have been proposed. BXO occurs most commonly on the prepuce and glans penis. It is considered to have premalignant potential to transform into squamous neoplasia. This postulation rests on retrospective studies and parallels drawn with vulvar LS and squamous cell carcinoma (SCC) development. Histologically, BXO and vulvar LS are considered the same disease.⁴¹ There is a paucity of evidence-based guidelines to assist with appropriate follow-up for patients with BXO.     

Maintaining the privacy of a minor's sexual orientation and gender identity in the medical environment

Dealing with self‐identity, sexual orientation, and gender identity is often a struggle for minors. The potential negative outcomes minors face when their sexual orientation or gender identity is disclosed to others before they have an opportunity to address it in their own time has become more evident in the media. Because of the intimate nature of the provider–patient relationship, the healthcare provider may be the first person in whom they confide. If a minor receives a positive, nonjudgmental experience from his or her provider, it will often lead to a more positive self‐image, whereas a negative, judgmental experience will often result in the opposite. Critical components of their experience are a sense of trust that the provider will keep the information confidential and the healthcare setting being organized in a manner that promotes privacy. Healthcare providers play a key role in developing and projecting a safe, comfortable environment where the minor can discretely discuss issues of sexual orientation and gender identity. Establishing this environment will usually facilitate a positive therapeutic relationship between the minor and the provider. Steps healthcare providers can take to achieve trust from minor patients and ensure confidentiality of sensitive information are understanding privacy laws, making privacy a priority, getting consent, training staff, and demonstrating privacy in the environment.