Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions.

Reproductive genetic carrier screening (RGCS) provides information about people's chance of having children with certain genetic conditions, to inform reproductive decision making. RGCS at population scale requires a robust and streamlined program that is purposively designed and formally implemented to ensure equity and consistency. There are many considerations in selecting conditions, genes and variants for inclusion in RGCS, with severity of the genetic condition a key criterion.

Nationwide, Couple-Based Genetic Carrier Screening.

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.

Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.

Do Doctors Have a Responsibility to Challenge the Distorting Influence of Commerce on Healthcare Delivery? The Case of Assisted Reproductive Technology.

Medicine has always existed in a marketplace, and there have been extensive discussions about the ethical implications of commerce in health care. For the most part, this discussion has focused on health professionals' interactions with pharmaceutical and other health technology industries, with less attention given to other types of commercial influences, such as corporatized health services and fee-for-service practice. This is a significant lacuna because in many jurisdictions, some or all of healthcare is delivered in the private sector.

Unpacking the notion of "serious" genetic conditions: towards implementation in reproductive decision-making?

The notion of a "serious" genetic condition is commonly used in clinical contexts, laws, and policies to define and delineate both the permissibility of and, access to, reproductive genomic technologies. Yet, the notion lacks conceptual and operational clarity, which can lead to its inconsistent appraisal and application. A common understanding of the relevant considerations of "serious" is lacking.

From ownership to custodianship of tumor biopsy tissue in genomic testing: a mixed methods study of patient views.

Tumor mutation profiling (MP) is often conducted on tissue from biopsies conducted for clinical purposes (diagnostic tissue). We aimed to explore the views of patients with cancer on who should own tumor biopsy tissue, pay for its storage, and decide on its future use; and determine their attitudes to and predictors of undergoing additional biopsies if required for research purposes. In this mixed methods, cross-sectional study, patients with advanced solid cancers enrolled in the Molecular Screening and Therapeutics Program (n = 397) completed a questionnaire prior to undergoing MP (n = 356/397).

Medicine in the marketplace: clinician and patient views on commercial influences on assisted reproductive technology.

Research Question: What are the views and experiences of patient and expert stakeholders on the positive and negative impacts of commercial influences on the provision of assisted reproductive technology (ART) services, and what are their suggestions for governance reforms?

Design: Semi-structured interviews were conducted with 31 ART industry experts from across Australia and New Zealand and 25 patients undergoing ART from metropolitan and regional Australia, between September 2020 and September 2021. Data were analysed using thematic analysis.

Results: Expert and patient participants considered that commercial forces influence the provision of ART in a number of positive ways - increasing sustainability, ensuring consistency in standards and providing patients with greater choice.

'Integrating Ethics and Equity with Economics and Effectiveness for newborn screening in the genomic age: A qualitative study protocol of stakeholder perspectives.

Background: Newborn bloodspot screening is a well-established population health initiative that detects serious, childhood-onset, treatable conditions to improve health outcomes. With genomic technologies advancing rapidly, many countries are actively discussing the introduction of genomic assays into newborn screening programs. While adding genomic testing to Australia's newborn screening program could improve outcomes for infants and families, it must be considered against potential harms, ethical, legal, equity and social implications, and economic and health system impacts.

Acceptability of risk-tailored cancer screening among Australian GPs: a qualitative study.

Background: Cancer screening that is tailored to individual risk has the potential to improve health outcomes and reduce screening-related harms, if implemented well. However, successful implementation depends on acceptability, particularly as this approach will require GPs to change their practice.

Aim: To explore Australian GPs' views about the acceptability of risk-tailored screening across cancer types and to identify barriers to and facilitators of implementation.

Moral justification for the use of 'add-ons' in assisted reproductive technology: experts' views and experiences.

Research Question: What factors do assisted reproductive terchnology (ART) providers take into account when they make decisions about offering 'add-ons'?

Design: A qualitative analysis of interviews with 31 ART professionals, focusing on their views and experiences in relation to add-ons, including the factors that are considered when doctors make decisions about their use.

Results: The participants reported that a range of considerations are taken into account when it comes to justifying the use of a particular add-on in a given circumstance, including the likelihood of benefit and harm, patients' perceived psychological needs and preferences, and organizational expectations. Importantly, patient preferences, psychological factors and low risk of harm appear to be stronger motivations than increasing the likelihood of a live birth or the desire to innovate.

Hope and Exploitation in Commercial Provision of Assisted Reproductive Technologies.

Innovation is a key driver of care provision in assisted reproductive technologies (ART). ART providers offer a range of add-on interventions, aiming to augment standard in vitro fertilization protocols and improve the chances of a live birth. Particularly in the context of commercial provision, an ever-increasing array of add-ons are marketed to ART patients, even when evidence to support them is equivocal.

What's in a name? Justifying terminology for genomic findings beyond the initial test indication: A scoping review.

Genome sequencing can generate findings beyond the initial test indication that may be relevant to a patient or research participant's health. In the decade since the American College of Medical Genetics and Genomics published its recommendations for reporting these findings, consensus regarding terminology has remained elusive and a variety of terms are in use globally. We conducted a scoping review to explore terminology choice and the justifications underlying those choices.

Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

The introduction of genomic sequencing technologies into routine newborn screening programs in some form is not only inevitable but also already occurring in some settings. The question is therefore not "if" but "when and how" genomic newborn screening (GNBS) should be implemented. In April 2022, the Centre for Ethics of Paediatric Genomics held a one-day symposium exploring ethical issues relating to the use of genomic sequencing in a range of clinical settings.

Is there a duty to routinely reinterpret genomic variant classifications?

Multiple studies show that periodic reanalysis of genomic test results held by clinical laboratories delivers significant increases in overall diagnostic yield. However, while there is a widespread consensus that implementing routine reanalysis procedures is highly desirable, there is an equally widespread understanding that routine reanalysis of individual patient results is not presently feasible to perform for all patients. Instead, researchers, geneticists and ethicists are beginning to turn their attention to one part of reanalysis-reinterpretation of previously classified variants-as a means of achieving similar ends to large-scale individual reanalysis but in a more sustainable manner.

Is It Just for a Screening Program to Give People All the Information They Want?

Genomic screening at population scale generates many ethical considerations. One is the normative role that people's preferences should play in determining access to genomic information in screening contexts, particularly information that falls beyond the scope of screening. We expect both that people will express a preference to receive such results and that there will be interest from the professional community in providing them.