Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.

Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is limited in countries from Latin America. We aimed to describe the results of GS in patients with suspected rare genetic diseases in Colombia.

Curricular Reform in Serious Illness Communication and Palliative Care: Using Medical Students' Voices to Guide Change.

Purpose: To gather and leverage the voices of students to drive creation of required, integrated palliative care curricula within undergraduate medical education in Massachusetts, which is lacking in a majority of U.S. medical schools.

"We're Onto Something Here!": Clinician Perspectives of a Pilot Program to Increase Palliative Care Access in an Urban Skilled Nursing Facility.

Many adults cycle between the hospital and skilled nursing facilities (SNFs) near the end of life. However, palliative care services, which can provide specialized support for patients with serious illness, are often limited at SNFs. The "3C's Palliative Care Program," a 5-month pilot, aimed to improve palliative care access for patients admitted to subacute rehabilitation at an SNF affiliated with an urban academic medical center.

Development of Objectives to Inform a National Standardized Primary Palliative Care Curriculum for Health Professions Students.

Despite recent educational advances, the need for a national standardized primary palliative care curriculum for health professions students remains evident. An interprofessional leadership team developed a set of core learning objectives built on previously published competencies. A survey was then sent to palliative care experts for feedback and consensus.

Consequences of suboptimal communication for patients with limited English proficiency in the intensive care unit and suggestions for a way forward: A qualitative study of healthcare team perceptions.

Purpose: To understand the healthcare team's perceptions of the negative consequences of suboptimal communication and their recommendations to improve communication with patients and families who have Limited English Proficiency (LEP) in the Intensive Care Unit (ICU).

Materials And Methods: We performed a qualitative study using semi-structured interviews of physicians, nurses, and interpreters from 3 ICUs at Mayo Clinic Rochester, between November 2017 and April 2018.

Results: We identified 5 consequences of suboptimal communication: 1) Suboptimal assessment and treatment of patient symptoms, 2) Unmet patient and family expectations, 3) Decreased patient autonomy, 4) Unmet end of life wishes and 5) Clinician Distress.

End-of-Life Decision-Making for ICU Patients With Limited English Proficiency: A Qualitative Study of Healthcare Team Insights.

Objectives: Research indicates that the increasing population of over 25 million people in the United States who have limited English proficiency experience differences in decision-making and subsequent care at end of life in the ICU when compared with the general population. The objective of this study was to assess the perceptions of healthcare team members about the factors that influence discussions and decision-making about end of life for patients and family members with limited English proficiency in the ICU.

Design: Qualitative study using semistructured interviews with ICU physicians, nurses, and interpreters.

How Should ECMO Initiation and Withdrawal Decisions Be Shared?

Extracorporeal membrane oxygenation (ECMO) is a new technology used to rescue patients with severe circulatory or respiratory failure and help bridge them to recovery or to definitive therapies like device implantation or organ transplantation. The increasing availability and success of ECMO has generated numerous ethical questions about its use and potential misuse. This commentary on a case of a patient who is no longer a candidate for transplant but wishes to continue ECMO identifies strategies clinicians can use to reconcile competing responsibilities.

Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals.

Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain.

An Individual Housing-Based Socioeconomic Status Measure Predicts Advance Care Planning and Nursing Home Utilization.

Background:: Socioeconomic status (SES) is an important determinant of disparities in health care and may play a role in end-of-life care and decision-making. The SES is difficult to retrospectively abstract from current electronic medical records and data sets.

Objective:: Using a validated SES measuring tool derived from home address, the HOUsing-based SocioEconomic Status index, termed HOUSES we wanted to determine whether SES is associated with differences in end-of-life care and decision-making.

Decisional regret in women receiving high risk or inconclusive prenatal cell-free DNA screening results.

This study examined the experiences of women receiving high-risk cell-free DNA (cfDNA) screening results, with particular focus on decisional satisfaction after receiving high-risk, false, or inconclusive results. It is already known that cell-free DNA screening is rapidly expanding in the clinical practice. A growing number of women are offered cfDNA screening for an increasingly broad range of chromosomal and microdeletion syndromes.

Differences in Code Status and End-of-Life Decision Making in Patients With Limited English Proficiency in the Intensive Care Unit.

Objective: To determine whether code status, advance directives, and decisions to limit life support were different for patients with limited English proficiency (LEP) in the intensive care unit (ICU) as compared with patients whose primary language was English.

Patients And Methods: We conducted a retrospective cohort study in adult patients admitted to 7 ICUs in a single tertiary academic medical center from May 31, 2011, through June 1, 2014.

Results: Of the 27,523 patients admitted to the ICU, 779 (2.