Benefits and limitations of telegenetics: A literature review.

Telegenetics involves the use of technology (generally video conferencing) to remotely provide genetic services. A telegenetics platform is critical for those with limitations or vulnerabilities compromising their ability to attend clinic in-person, including individuals in rural areas. As the demand for remote genetics services increases, and amidst the COVID-19 pandemic with social distancing practices in place, we conducted a literature review to examine the benefits and limitations of telegenetics and explore the views of patients and health professionals utilizing telegenetics. Searches of the PubMed database identified 21 relevant primary studies for inclusion. The majority of studies found acceptability of telegenetics to be high among patients and health professionals and that telegenetics provided access to genetics services for underserved communities. The main benefits cited include cost-effectiveness and reduction in travel time for genetics services providing outreach clinics and patients who would otherwise travel long distances to access genetics. Patients appreciated the convenience of telegenetics including the reduced wait times, although a minority of patients reported their psychosocial needs were not adequately met. Eight studies compared outcomes between telegenetics and in-person services; findings suggested when comparing telegenetics patients to their in-person counterparts, telegenetics patients had a similar level of knowledge and understanding of genetics and similar psychological outcomes. Some studies reported challenges related to establishing rapport and reading and responding to verbal cues via telegenetics, while technical issues were not generally found to be a major limitation. Some service adaptations, for example, counseling strategies, may be required to successfully deliver telegenetics. Further research may be necessary to gather and examine data on how telegenetics outcomes compare to that of in-person genetic counseling and adapt services accordingly.

Impact of direct-to-consumer genetic testing on Australian clinical genetics services.

The increasing popularity of direct-to-consumer genetic testing (DTCGT) is thought to be creating a burden on clinical genetic services worldwide. However, no Australian studies have collected recent evidence regarding this impact. We surveyed Australian clinical genetics services about DTCGT-related referrals over the past 10 years. Eleven publicly-funded services reported over 100 DTCGT-related referrals. Most (83%) involved general practitioners seeking interpretation of DTCGT results. More than 30% involved imputed risk estimates from third-party software tools. Services reported low validation rates for DTCGT results (<10%), and variable procedures for managing DTCGT referrals, with most (8/11) lacking specific procedures. Our study helps quantify the impact of DTCGT on clinical genetics services, and highlights the impact of imputed risk estimates.

Entrapment of photosystem I within self-assembled films.

We have developed a process to incorporate an integral membrane protein, Photosystem I (PSI), into an organic thin film at an electrode surface and thereby insulate the protein complex on the surface while mimicking its natural environment. The PSI complex, which is primarily more hydrophobic on the exterior than interior, is hydrophobically confined in vivo within the thylakoid membrane. To mimic the thylakoid membrane and entrap PSI on an electrode, we have designed a series of steps using a thin self-assembled monolayer (SAM) to adsorb and orient PSI followed by exposures to longer-chained methyl-terminated alkanethiols that place exchange with components of the original SAM in the interprotein domains. In this process, PSI is first adsorbed onto a HOC(6)S/Au substrate through a short exposure to a dilute solution of the protein to achieve a protein coverage of approximately 25%. The PSI/HOC(6)S/Au substrate is then placed into a solution containing one of various longer-chained alkanethiols including C(22)SH or C(18)OC(19)SH. Changes in thickness, interfacial capacitance, infrared spectra, and surface wettability were used to assess the extent of backfilling by the long-chained thiols. The coverage of the protein layer and the solvent used for backfilling affected the rate and quality of the SAM formed in the interprotein regions. After exposure of the PSI layer to solvents containing alkanethiols, there was only minor loss of protein on the surface and no real change in protein secondary structure as evidenced by reflectance absorption infrared spectroscopy.

Photosystem I patterning imaged by scanning electrochemical microscopy.

We report the first directed adsorption of Photosystem I (PSI) on patterned surfaces containing discrete regions of methyl- and hydroxyl-terminated self-assembled monolayers (SAMs) on gold. SAM and PSI patterns are characterized by scanning electrochemical microscopy (SECM). The insulating protein complex layer blocks the electron transfer of the SECM mediator, thereby reducing the electrochemical current significantly. Uniformly and densely packed adsorbed protein layers are observed with SECM. Pattern images correlate with our previous studies where we showed that low-energy surfaces (e.g., CH3-terminated) inhibit PSI adsorption in the presence of Triton X-100, whereas high-energy surfaces (e.g., OH-terminated) enable adsorption. Therefore, a SAM pattern with alternating methyl and hydroxyl surface regions allows PSI adsorption only on the hydroxyl surface, and this is demonstrated in the resulting SECM images.

Effect of lidocaine on ovalbumin and egg albumin foam stability.

Foam fractionation is a simple separation process that can remove and concentrate hydrophobic molecules such as proteins, surfactants, and organic wastes from an aqueous solution. Bovine serum albumin and ovalbumin have been widely used as model proteins due to their strong foaming potential and low price. Here, we study the effect of lidocaine on albumin foam, since drugs like lidocaine are known to bind with albumin. We observed that lidocaine not only enhances the amount of foam produced but also the stability of that foam as well. The foam stability was evaluated as the decay rate constant of the foam, determined from a change in height (or volume) of the foam over a given time period.