Summary Over 100 million research participants around the world have had research array-based genotyping (GT) or genome sequencing (GS), but only a small fraction of these have been offered return of actionable genomic findings (gRoR). Between 2017 and 2021, we analyzed genomic results from 36,417 participants in the Mass General Brigham Biobank and offered to confirm and return pathogenic and likely pathogenic variants (PLPVs) in 59 genes. Variant verification prior to participant recontact revealed that GT falsely identified PLPVs in 44.9% of samples, and GT failed to identify 72.0% of PLPVs detected in a subset of samples that were also sequenced. GT and GS detected verified PLPVs in 1% and 2.5% of the cohort, respectively. Of 256 participants who were alerted that they carried actionable PLPVs, 37.5% actively or passively declined further disclosure. 76.3% of those carrying PLPVs were unaware that they were carrying the variant, and over half of those met published professional criteria for genetic testing but had never been tested. This gRoR protocol cost approximately $129,000 USD per year in laboratory testing and research staff support, representing $14 per participant whose DNA was analyzed or $3,224 per participant in whom a PLPV was confirmed and disclosed. These data provide logistical details around gRoR that could help other investigators planning to return genomic results.
We examined whether parent engagement in parent training (PT) differed based on PT format (parent group-based with video versus mastery-based individual coaching with child) in an economically disadvantaged sample of families seeking behavioral treatment for their preschool children in an urban mental health clinic. Parents (N=159; 76.1% mothers, 69.8% African American, 73% low-income) were randomized to one of two interventions, Chicago Parent Program (parent group + video; CPP) or Parent Child Interaction Therapy (individualized mastery-based coaching; PCIT). Parent engagement indicators compared were PT attendance and completion rates, participation quality, and parent satisfaction. Risk factors predictive of PT attrition (parent depression, psychosocial adversity, child behavior problem severity, length of wait time to start PT) were also compared to determine whether they were more likely to affect engagement in one PT format versus the other. No significant differences were found in PT attendance or completion rates by format. Clinicians rated parents’ engagement higher in PCIT than in CPP while satisfaction with PT was rated higher by parents in CPP compared to PCIT. Never attending PT was associated with more psychosocial adversity and externalizing behavior problems for CPP and with higher baseline depression for PCIT. Parents with more psychosocial adversities and higher baseline depression were less likely to complete PCIT. None of the risk factors differentiated CPP completers from non-completers. Delay to treatment start was longer for PCIT than CPP. Strengths and limitations of each PT format are discussed as they relate to the needs and realities of families living in urban poverty.
S usan is a nurse in the medical intensive care unit. For the past 3 days, she has cared for Ms B, a 59-year-old woman admitted with pelvic pain. Ms B was transferred to the medical intensive care unit because of hemodynamic instability after vaginal blood loss. She has undergone diagnostic tests and has a new diagnosis of uterine cancer. Ms B retains decision-making capacity but is critically ill and decisions need to be made about her treatment. Ms B has not yet been told her cancer diagnosis because she speaks Cantonese and the health care team has been working to coordinate a meeting where a certified health care interpreter can help deliver this news. However, in the meantime, a medical intern has inadvertently disclosed Ms B's cancer diagnosis to Ms B's aunt, Mei, while she was visiting the hospital one afternoon. Mei, although devastated by the new cancer diagnosis, is even more distraught at the thought of her niece living with the knowledge that she has cancer. Mei explains, "Doctors in China don't tell patients they have cancer and my niece would lose hope if she learns of her diagnosis, become depressed, and no longer want to live." Yesterday, while talking with Susan through a telephone interpreter, Ms B asked if something was seriously wrong with her. Susan was unsure what to say, so quickly redirected the conversation when the phlebotomist came into the room to collect samples for laboratory tests. Susan feels Ms B has a right to know her health information but also understands the concerns of Ms B's aunt. Today on rounds, Mei implored the health care team to conceal Ms B's new cancer diagnosis. The team explained that because Ms B has the ability to make her own decisions, they need to inform Ms B that they have new information about her health and ask if she wants to know more. Ms B's attending physician has several other patients to see and plans to fit the meeting into his schedule late in the day, so he wants to use a telephone interpreter instead of an in-person interpreter. The family has reluctantly agreed to attend a meeting with the health care team and patient where, through an interpreter,
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