Abstract:
A new systems approach to diseased states and wellness result in a new branch in the healthcare services, namely, personalized & precision medicine (PPM). PPM as being the Grand Challenge to forecast, to predict and to prevent is rooted in a big and a new science generated by the achievements of systems biology and translational medicine, whilst integrating platforms of OMICS- and IT-technologies.
NIH (Bethesda, MD, USA) have The Unique Decision had on setting up in USA a Clinical Research Network including Centers of PPM, Centers for Personalized & Precision Pediatrics (CPPP) and Reproductive Precision Medicine Centers (RPMC, e.g., at Columbia University).
The concept of PPM and RPMC has been applied in reproductive medicine long before its popularization. Due to the multifactorial etiology of the fertility problems and complications, with genetic-, environment-, and lifestyle-associated factors being involved, developing precise methods able to overcome them during gestation is a high priority. The causes of infertility are various, and factors influencing the success rates of ART are complicated; hence, every step of reproductive medicine, such as the diagnosis of infertility causes and transfer of healthy embryos, needs to be precise.
In the obstetric field, several opportunities exist to leverage PPM-guided diagnostic and treatment tool, as well as for the development of innovative strategies with the potential to overcome the challenges associated with fetal growth restriction, preterm birth, and fetal abnormalities, to state a few.
One of the well-known uses of PPM-related resources in reproductive medicine and family planning and female infertility is the genetic test that most accurately determines how receptive a woman’s endometrium (inner uterine lining) is for implanting an embryo. Genomics and proteomics tests represent examples of methods to investigate the molecular level of male infertility as well. Perhaps what is currently being offered as personalized treatment of infertile patient is more based on “the best expert opinion of the attending clinician” than “the best evidence-based data available”. In this sense, The Columbia University Reproductive Precision Medicine Center is perfectly positioned to be a global leader in the development and implementation of these approaches. And PPM and personalized and precision genomics as the major part of the Reproductive medicine & Family planning are a new and exciting field with the potential to significantly improve medical care for pregnant women and newborns.
In general, four major types of genomic biomarkers are crucially important and valuable for PPM-related services: Diagnostic, Predictive, Monitoring and Prognostic ones, to be used in most of genomic testing platforms. Among the testing panels are: Carrier testing, Pre-symptomatic & Predictive Testing, Pre-conception testing, Newborn testing, Prenatal testing (NIPT), Nutriogenomic and Pharmacogenomic testing.
The use of genomic profiling for pregnant women and prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal genomic screening also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype but may be relevant to fetal and newborn health. In this context, fertility awareness-based methods (FAMs) represent the harmony of science and self-awareness. By tuning into your body’s natural rhythms, these precision methods empower you to make informed decisions regarding conception - or its prevention, often in consultation with your obstetrician.
Improved patient (or persons-at-risk) outcomes must consider not only increased survival, or quality of life, but also improved clinical decision support (CDS) & making! Each decision-maker values the impact of their decision to use PPM on their own budget and well-being, which may not necessarily be optimal for society as a whole. It would be extremely useful to integrate data harvesting from different databanks for applications such as prediction and personalization of further treatment to thus provide more tailored measures for the patients resulting in improved patient outcomes, reduced adverse events, and more cost effective use of health care resources. A lack of medical guidelines has been identified by the majority of responders as the predominant barrier for adoption, indicating a need for the development of best practices and guidelines to support the implementation of PPM!
Meanwhile, family planning specialists have the unique and exhilarating responsibility to help ensure that young patients derive maximal benefit from genomics which, in turn, will provide the family planning specialists new and often unexpected insights into the biological basis of health and disease and will afford new health care options requiring informed and sometimes challenging choices of physicians and patients. So, developing reproductology-related expert-driven competency in genomics is a daunting task, but one that the specialty can and must accomplish in the near future. Achieving such competency will provide effectively integrating genomics into practice, will improve reproductology-related experts’ effectiveness in caring for patients current health concerns and will make experts the guides to lifelong health. For reproductive medicine, precision has always been a criterion in every procedure, including etiology-oriented examination, specific diagnosis, identifying healthy embryos, WOI, and accurate implantation. Combined with genetic information and a large volume of biomedical data, an unknown territory of reproductive medicine will be explored, and the mechanisms underlying the causes of infertility that we do not yet know will be elucidated. The application of PPM has become a guideline for the development of medicine, especially for reproductive medicine.
PPM in reproductive health involves using an individual’s genetic and biological information to design customized treatment plans for fertility and related conditions. From identifying genetic mutations that impact fertility to tailoring hormonal therapies, PPM allows fertility specialists to develop interventions that maximize success while minimizing risks. PPM offers numerous applications in reproductive health, addressing a wide range of challenges:
(i) genetic testing and screening, (ii) preimplantation genetic testing, (iii) tailored fertility treatments, (iv) predicting treatment success, (v) optimizing embryo selection, (vi) understanding immune factors in fertility, (vii) precision prenatal care, (viii) informed decision-making, (ix) pre-early diagnosis of underlying conditions.
In this sense, PPM is gaining momentum in the family planning and obstetrics field for its potential to revolutionize the standard of care and lead to better outcomes for both mothers and babies. The possibility of improving prevention and containing side effects will contribute to controlling overall healthcare costs through the treatment of potentially critical conditions for pregnant women and their offspring.
PPM is transforming the landscape of Obstetrics, Family Planning and Reproductive Medicine as a whole, offering tailored approaches to care that enhance patient outcomes. From genetic screening and counseling to PPM-guided oncology and hormonal therapies, PPM has the potential to revolutionize women’s and offspring healthcare. However, successful implementation requires collaboration among healthcare providers, geneticists, biodesigners and researchers, alongside continued advancements in technology and ethical frameworks. By embracing PPM, reproductive medicine and family planning can pave the way for a future where women receive individualized, evidence-based care, leading to improved health and well-being.
